Variant report

Variant	rs9975520
Chromosome Location	chr21:45773439-45773440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr21:45772893-45774482	HL-60	blood:	n/a	n/a
2	POLR2A	chr21:45772870-45775733	HL-60	blood:	n/a	n/a
3	MTA3	chr21:45773030-45774046	GM12878	blood:	n/a	n/a
4	MYC	chr21:45773020-45774757	NB4	blood:	n/a	chr21:45773777-45773788 chr21:45773776-45773789 chr21:45773778-45773787 chr21:45774627-45774635 chr21:45773778-45773788 chr21:45773567-45773576 chr21:45773779-45773786 chr21:45773777-45773788 chr21:45773778-45773787
5	POLR2A	chr21:45773120-45773708	GM12878	blood:	n/a	n/a
6	SMC3	chr21:45773322-45773553	GM12878	blood:	n/a	n/a
7	MYC	chr21:45773344-45773444	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:45773238-45773738	GM12891	blood:	n/a	n/a
9	POLR2A	chr21:45772839-45775763	HL-60	blood:	n/a	n/a
10	ELF1	chr21:45773045-45773853	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:45773137-45773668	GM12878	blood:	n/a	n/a
12	TCF12	chr21:45773028-45773586	GM12878	blood:	n/a	chr21:45773543-45773553 chr21:45773562-45773569
13	POLR2A	chr21:45773177-45773740	GM18951	blood:	n/a	n/a
14	POLR2A	chr21:45773231-45773792	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:45773183-45773700	GM12892	blood:	n/a	n/a
16	RUNX3	chr21:45773014-45774119	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:45773057-45774697	GM12891	blood:	n/a	n/a
18	RELA	chr21:45773012-45774803	GM12891	blood:	n/a	n/a
19	RUNX3	chr21:45773113-45774118	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:45773132-45774179	GM19099	blood:	n/a	n/a
21	POLR2A	chr21:45773066-45774148	GM12878	blood:	n/a	n/a
22	PML	chr21:45773044-45773723	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:45773242-45773673	GM12878	blood:	n/a	n/a
24	SPI1	chr21:45772943-45773655	HL-60	blood:	n/a	n/a
25	POLR2A	chr21:45773124-45774527	NB4	blood:	n/a	n/a
26	TCF3	chr21:45773005-45773573	GM12878	blood:	n/a	n/a
27	MAX	chr21:45773283-45773585	GM12878	blood:	n/a	chr21:45773567-45773576
28	FOXM1	chr21:45773234-45773601	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:45773273-45773641	GM12891	blood:	n/a	n/a
30	POLR2A	chr21:45773179-45773717	GM12878	blood:	n/a	n/a
31	MAX	chr21:45773219-45773561	K562	blood:	n/a	n/a
32	RELA	chr21:45773245-45774176	GM19099	blood:	n/a	n/a
33	MAX	chr21:45773018-45775604	NB4	blood:	n/a	chr21:45773777-45773788 chr21:45773776-45773789 chr21:45773778-45773787 chr21:45775135-45775145 chr21:45774627-45774635 chr21:45773778-45773788 chr21:45773567-45773576 chr21:45773779-45773786 chr21:45773777-45773788 chr21:45773778-45773787
34	POLR2A	chr21:45773130-45773799	GM12891	blood:	n/a	n/a
35	MAX	chr21:45773265-45774261	GM12878	blood:	n/a	chr21:45773777-45773788 chr21:45773776-45773789 chr21:45773778-45773787 chr21:45773778-45773788 chr21:45773567-45773576 chr21:45773779-45773786 chr21:45773777-45773788 chr21:45773778-45773787

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45773400-45773450	AoSMC	blood vessel:	n/a
2	chr21:45773400-45773450	A549	lung:	n/a
3	chr21:45773400-45773450	HMEC	breast:	n/a
4	chr21:45773400-45773450	HRCEpiC	kidney:	n/a
5	chr21:45773400-45773450	H1-hESC	embryonic stem cell:	embryo
6	chr21:45773400-45773450	SK-N-SH	brain:	n/a
7	chr21:45773400-45773450	RPTEC	kidney:	n/a
8	chr21:45773400-45773450	AG10803	skin:	n/a
9	chr21:45773400-45773450	AG04450	lung:	fetal
10	chr21:45773400-45773450	GM12878	blood:	n/a
11	chr21:45773400-45773450	HEK293	kidney:	embryo
12	chr21:45773400-45773450	Hela-S3	cervix:	n/a
13	chr21:45773400-45773450	GM06990	blood:	n/a
14	chr21:45773400-45773450	HL-60	blood:	n/a
15	chr21:45773400-45773450	HEEpiC	esophagus:	n/a
16	chr21:45773400-45773450	PFSK-1	brain:	n/a
17	chr21:45773400-45773450	SK-N-MC	brain:	n/a
18	chr21:45773400-45773450	HCT-116	colon:	n/a
19	chr21:45773400-45773450	HIPEpiC	eye:	n/a
20	chr21:45773400-45773450	LNCaP	prostate:	n/a
21	chr21:45773400-45773450	PANC-1	pancreas:	n/a
22	chr21:45773400-45773450	HUVEC	blood vessel:	n/a
23	chr21:45773400-45773450	Caco-2	colon:	n/a
24	chr21:45773400-45773450	GM19239	blood:	n/a
25	chr21:45773400-45773450	HPAEpiC	pulmonary alveolar:	n/a
26	chr21:45773400-45773450	CMK	blood:	n/a
27	chr21:45773400-45773450	HAEpiC	amniotic membrane:	n/a
28	chr21:45773400-45773450	GM12892	blood:	n/a
29	chr21:45773400-45773450	SKMC	muscle:	n/a
30	chr21:45773400-45773450	GM12891	blood:	n/a
31	chr21:45773400-45773450	HRPEpiC	eye:	n/a
32	chr21:45773400-45773450	HNPCEpiC	eye:	n/a
33	chr21:45773400-45773450	SK-N-SH_RA	brain:	n/a
34	chr21:45773400-45773450	MCF-7	breast:	n/a
35	chr21:45773400-45773450	NHBE	bronchial:	n/a
36	chr21:45773400-45773450	AG04449	skin:	fetal
37	chr21:45773400-45773450	Hepatocyte	liver:	n/a
38	chr21:45773400-45773450	ovcar-3	ovarian:	n/a
39	chr21:45773400-45773450	SAEC	small airway:	n/a
40	chr21:45773400-45773450	BJ	skin:	n/a
41	chr21:45773400-45773450	HepG2	liver:	n/a
42	chr21:45773400-45773450	AG09319	gingival:	n/a
43	chr21:45773400-45773450	PrEC	prostate:	n/a
44	chr21:45773400-45773450	Jurkat	blood:	n/a
45	chr21:45773400-45773450	NHDF-neo	bronchial:	n/a
46	chr21:45773400-45773450	HCM	heart:	n/a
47	chr21:45773400-45773450	ProgFib	skin:	n/a
48	chr21:45773400-45773450	NH-A	brain:	n/a
49	chr21:45773400-45773450	AG09309	skin:	n/a
50	chr21:45773400-45773450	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45769794..45771813-chr21:45773433..45775521,3	K562	blood:
2	chr21:45757779..45764116-chr21:45768144..45773804,8	K562	blood:

Variant related genes	Relation type
TRPM2	TF binding region
TRPM2	CpG island
ENSG00000232969	Chromatin interaction
ENSG00000142185	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11910268	0.89[ASN][1000 genomes]
rs17004644	1.00[EUR][1000 genomes]
rs41389047	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs45455599	0.89[ASN][1000 genomes]
rs45493992	1.00[EUR][1000 genomes]
rs45542934	0.89[ASN][1000 genomes]
rs45551339	1.00[EUR][1000 genomes]
rs45614632	0.89[ASN][1000 genomes]
rs61737085	1.00[EUR][1000 genomes]
rs7276188	1.00[TSI][hapmap]
rs7279584	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs73374050	1.00[EUR][1000 genomes]
rs9653782	1.00[EUR][1000 genomes]
rs9808754	1.00[JPT][hapmap]
rs9974927	0.85[CHD][hapmap]
rs9977970	1.00[JPT][hapmap]
rs9978250	0.89[ASN][1000 genomes]
rs9979908	1.00[EUR][1000 genomes]
rs9982220	1.00[JPT][hapmap]
rs9982584	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
5	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
10	nsv913910	chr21:45681153-45787250	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
12	nsv913913	chr21:45687581-45787250	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv913917	chr21:45697755-45787250	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
15	nsv913920	chr21:45699404-45824792	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
17	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
18	nsv913927	chr21:45700641-45787250	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv913928	chr21:45700641-45811343	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
21	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
22	nsv913932	chr21:45703660-45787250	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv913933	chr21:45703660-45811343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
24	nsv913935	chr21:45709153-45787250	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
25	nsv913936	chr21:45709153-45811343	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
26	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
27	nsv913938	chr21:45712588-45787250	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
28	nsv913939	chr21:45712588-45818609	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
29	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
30	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
31	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
32	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
33	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
34	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
35	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
36	nsv1059107	chr21:45749304-45813036	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
37	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
38	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
39	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
40	nsv587781	chr21:45764397-45867471	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
41	esv1837121	chr21:45768598-45829570	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9975520	TRPM2	cis	lymphoblastoid	seeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45770200-45774800	Weak transcription	Right Atrium	heart
2	chr21:45770600-45774800	Weak transcription	Gastric	stomach
3	chr21:45770800-45773600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr21:45771200-45795800	Weak transcription	Brain Angular Gyrus	brain
5	chr21:45771400-45773600	Weak transcription	Brain Anterior Caudate	brain
6	chr21:45771400-45775600	Enhancers	Spleen	Spleen
7	chr21:45771800-45788800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:45772000-45774400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:45772000-45775000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr21:45772200-45775800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr21:45772200-45776000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:45772200-45777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:45772400-45774200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:45772600-45774000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr21:45772600-45774000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:45772600-45774800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr21:45772800-45773600	Enhancers	Lung	lung
18	chr21:45772800-45773800	Bivalent Enhancer	Fetal Lung	lung
19	chr21:45772800-45773800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr21:45772800-45774200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr21:45772800-45774400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:45772800-45774400	Active TSS	Rectal Smooth Muscle	rectum
23	chr21:45772800-45774600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr21:45772800-45775600	Active TSS	Brain Hippocampus Middle	brain
25	chr21:45773000-45773600	Active TSS	Duodenum Mucosa	Duodenum
26	chr21:45773000-45773800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr21:45773000-45773800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr21:45773000-45773800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:45773000-45773800	Flanking Active TSS	Thymus	Thymus
30	chr21:45773000-45774000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr21:45773000-45774000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr21:45773000-45774200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:45773000-45774400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr21:45773000-45774400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr21:45773000-45774800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr21:45773000-45775600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr21:45773200-45773600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45773200-45773800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:45773200-45773800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr21:45773200-45774000	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr21:45773200-45774200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr21:45773200-45774200	Flanking Active TSS	GM12878-XiMat	blood
43	chr21:45773200-45774600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr21:45773200-45774600	Flanking Active TSS	Fetal Thymus	thymus
45	chr21:45773200-45775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:45773400-45773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:45773400-45773600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr21:45773400-45773800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45773400-45773800	Flanking Active TSS	Liver	Liver
50	chr21:45773400-45773800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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