Variant report

Variant	rs1005045
Chromosome Location	chr21:45582545-45582546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45582101-45582685	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:45582334-45582593	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45582497-45582547	Caco-2	colon:	n/a
2	chr21:45582497-45582547	SAEC	small airway:	n/a
3	chr21:45582497-45582547	IMR90	lung:	fetal
4	chr21:45582497-45582547	AG04449	skin:	fetal
5	chr21:45582497-45582547	NB4	blood:	n/a
6	chr21:45582497-45582547	HNPCEpiC	eye:	n/a
7	chr21:45582497-45582547	SK-N-MC	brain:	n/a
8	chr21:45582497-45582547	HUVEC	blood vessel:	n/a
9	chr21:45582497-45582547	SKMC	muscle:	n/a
10	chr21:45582497-45582547	Hepatocyte	liver:	n/a
11	chr21:45582497-45582547	HCF	heart:	n/a
12	chr21:45582497-45582547	GM12892	blood:	n/a
13	chr21:45582497-45582547	K562	blood:	n/a
14	chr21:45582497-45582547	BE2_C	brain:	n/a
15	chr21:45582497-45582547	NHBE	bronchial:	n/a
16	chr21:45582497-45582547	SK-N-SH_RA	brain:	n/a
17	chr21:45582497-45582547	HL-60	blood:	n/a
18	chr21:45582497-45582547	HAEpiC	amniotic membrane:	n/a
19	chr21:45582497-45582547	HRE	kidney:	n/a
20	chr21:45582497-45582547	ProgFib	skin:	n/a
21	chr21:45582497-45582547	HEK293	kidney:	embryo
22	chr21:45582497-45582547	PANC-1	pancreas:	n/a
23	chr21:45582497-45582547	ECC-1	luminal epithelium:	n/a
24	chr21:45582497-45582547	Hela-S3	cervix:	n/a
25	chr21:45582497-45582547	NHDF-neo	bronchial:	n/a
26	chr21:45582497-45582547	AoSMC	blood vessel:	n/a
27	chr21:45582497-45582547	GM06990	blood:	n/a
28	chr21:45582497-45582547	T-47D	breast:	n/a
29	chr21:45582497-45582547	AG09309	skin:	n/a
30	chr21:45582497-45582547	HIPEpiC	eye:	n/a
31	chr21:45582497-45582547	MCF10A-Er-Src	breast:	n/a
32	chr21:45582497-45582547	GM12878	blood:	n/a
33	chr21:45582497-45582547	LNCaP	prostate:	n/a
34	chr21:45582497-45582547	NT2-D1	testis:	n/a
35	chr21:45582497-45582547	RPTEC	kidney:	n/a
36	chr21:45582497-45582547	HepG2	liver:	n/a
37	chr21:45582497-45582547	CMK	blood:	n/a
38	chr21:45582497-45582547	HCT-116	colon:	n/a
39	chr21:45582497-45582547	MCF-7	breast:	n/a
40	chr21:45582497-45582547	HCM	heart:	n/a
41	chr21:45582497-45582547	U87	brain:	n/a
42	chr21:45582497-45582547	A549	lung:	n/a
43	chr21:45582497-45582547	PFSK-1	brain:	n/a
44	chr21:45582497-45582547	HPAEpiC	pulmonary alveolar:	n/a
45	chr21:45582497-45582547	GM12891	blood:	n/a
46	chr21:45582497-45582547	NH-A	brain:	n/a
47	chr21:45582497-45582547	AG09319	gingival:	n/a
48	chr21:45582497-45582547	AG04450	lung:	fetal
49	chr21:45582497-45582547	Jurkat	blood:	n/a
50	chr21:45582497-45582547	ovcar-3	ovarian:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45581288..45584070-chr21:45586807..45588482,3	MCF-7	breast:
2	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
3	chr21:45581401..45583188-chr21:45662253..45664319,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225331	TF binding region
ENSG00000225331	CpG island

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11089116	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910604	1.00[JPT][hapmap]
rs12627273	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020943	1.00[JPT][hapmap]
rs2071144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2227265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838465	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2838470	0.89[JPT][hapmap]
rs2838479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838484	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2838487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838505	0.83[EUR][1000 genomes]
rs2838506	0.83[EUR][1000 genomes]
rs2838510	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60444278	0.96[ASN][1000 genomes]
rs60503889	1.00[ASN][1000 genomes]
rs7275572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7275654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7276787	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8128926	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs878132	1.00[JPT][hapmap]
rs9284512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9975436	0.86[ASN][1000 genomes]
rs9978109	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9978772	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9979931	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9980063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9982695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	64 gene(s)	inside rSNPs	diseases
19	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
20	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
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	esv3398689	chr21:45580349-45583097	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv3365228	chr21:45580724-45582772	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45571000-45582600	Weak transcription	Ovary	ovary
3	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
5	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
6	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45579800-45583000	Enhancers	Fetal Muscle Leg	muscle
8	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
9	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
11	chr21:45580200-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:45580800-45583200	Weak transcription	Fetal Intestine Small	intestine
13	chr21:45580800-45584800	Weak transcription	Gastric	stomach
14	chr21:45580800-45585800	Weak transcription	HUVEC	blood vessel
15	chr21:45580800-45586600	Weak transcription	Right Ventricle	heart
16	chr21:45580800-45589200	Weak transcription	Colonic Mucosa	Colon
17	chr21:45581000-45582600	Enhancers	Primary B cells from cord blood	blood
18	chr21:45581000-45582600	Weak transcription	Spleen	Spleen
19	chr21:45581000-45582800	Enhancers	Brain Hippocampus Middle	brain
20	chr21:45581000-45583600	Enhancers	Primary B cells from peripheral blood	blood
21	chr21:45581000-45584600	Weak transcription	Brain Germinal Matrix	brain
22	chr21:45581000-45586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:45581000-45586400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
25	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
26	chr21:45581200-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45581200-45584600	Weak transcription	Primary T cells from cord blood	blood
28	chr21:45581200-45585000	Weak transcription	Brain Angular Gyrus	brain
29	chr21:45581200-45585000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr21:45581200-45585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:45581200-45585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr21:45581200-45585800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr21:45581200-45586000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:45581200-45586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:45581200-45589000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:45581400-45583400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:45581400-45584400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr21:45581400-45584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45581400-45584600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:45581400-45584600	Weak transcription	Brain Substantia Nigra	brain
41	chr21:45581400-45584600	Weak transcription	Fetal Thymus	thymus
42	chr21:45581400-45585000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr21:45581400-45585200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr21:45581400-45585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr21:45581400-45586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr21:45581400-45586000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr21:45581400-45586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr21:45581400-45586800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45581600-45586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr21:45582000-45582800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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