Variant report

Variant	rs12626853
Chromosome Location	chr21:46077563-46077564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46077562-46077612	AG09309	skin:	n/a
2	chr21:46077562-46077612	HRE	kidney:	n/a
3	chr21:46077562-46077612	NHBE	bronchial:	n/a
4	chr21:46077562-46077612	SK-N-MC	brain:	n/a
5	chr21:46077562-46077612	CMK	blood:	n/a
6	chr21:46077562-46077612	HCT-116	colon:	n/a
7	chr21:46077562-46077612	HEEpiC	esophagus:	n/a
8	chr21:46077562-46077612	MCF10A-Er-Src	breast:	n/a
9	chr21:46077562-46077612	BE2_C	brain:	n/a
10	chr21:46077562-46077612	HUVEC	blood vessel:	n/a
11	chr21:46077562-46077612	AG04450	lung:	fetal
12	chr21:46077562-46077612	SK-N-SH	brain:	n/a
13	chr21:46077562-46077612	ECC-1	luminal epithelium:	n/a
14	chr21:46077562-46077612	PFSK-1	brain:	n/a
15	chr21:46077562-46077612	HL-60	blood:	n/a
16	chr21:46077562-46077612	NT2-D1	testis:	n/a
17	chr21:46077562-46077612	LNCaP	prostate:	n/a
18	chr21:46077562-46077612	AG04449	skin:	fetal
19	chr21:46077562-46077612	PrEC	prostate:	n/a
20	chr21:46077562-46077612	AG09319	gingival:	n/a
21	chr21:46077562-46077612	NH-A	brain:	n/a
22	chr21:46077562-46077612	RPTEC	kidney:	n/a
23	chr21:46077562-46077612	SAEC	small airway:	n/a
24	chr21:46077562-46077612	GM12878	blood:	n/a
25	chr21:46077562-46077612	GM12891	blood:	n/a
26	chr21:46077562-46077612	HMEC	breast:	n/a
27	chr21:46077562-46077612	Jurkat	blood:	n/a
28	chr21:46077562-46077612	AG10803	skin:	n/a
29	chr21:46077562-46077612	HNPCEpiC	eye:	n/a
30	chr21:46077562-46077612	ovcar-3	ovarian:	n/a
31	chr21:46077562-46077612	GM06990	blood:	n/a
32	chr21:46077562-46077612	GM19239	blood:	n/a
33	chr21:46077562-46077612	SKMC	muscle:	n/a
34	chr21:46077562-46077612	K562	blood:	n/a
35	chr21:46077562-46077612	AoSMC	blood vessel:	n/a
36	chr21:46077562-46077612	NB4	blood:	n/a
37	chr21:46077562-46077612	SK-N-SH_RA	brain:	n/a
38	chr21:46077562-46077612	HCPEpiC	choroid plexus:	n/a
39	chr21:46077562-46077612	A549	lung:	n/a
40	chr21:46077562-46077612	HCF	heart:	n/a
41	chr21:46077562-46077612	GM12892	blood:	n/a
42	chr21:46077562-46077612	Caco-2	colon:	n/a
43	chr21:46077562-46077612	ProgFib	skin:	n/a
44	chr21:46077562-46077612	HepG2	liver:	n/a
45	chr21:46077562-46077612	IMR90	lung:	fetal
46	chr21:46077562-46077612	H1-hESC	embryonic stem cell:	embryo
47	chr21:46077562-46077612	HAEpiC	amniotic membrane:	n/a
48	chr21:46077562-46077612	PANC-1	pancreas:	n/a
49	chr21:46077562-46077612	HPAEpiC	pulmonary alveolar:	n/a
50	chr21:46077562-46077612	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
KRTAP12-4	CpG island
KRTAP12-3	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10854464	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11088958	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11700616	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11911323	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12483360	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13046471	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13048478	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13049382	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13051885	0.86[JPT][hapmap]
rs13052189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052715	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186934	0.82[AMR][1000 genomes]
rs2329844	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329845	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838612	0.82[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap]
rs2838613	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838615	0.84[LWK][hapmap]
rs2838616	0.84[LWK][hapmap]
rs2838622	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838634	0.84[JPT][hapmap]
rs28735609	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4050979	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs7276859	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7509675	0.82[JPT][hapmap]
rs8126811	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8130076	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9967974	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9984686	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46073600-46079800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr21:46073600-46080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:46076200-46077600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:46076600-46077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46076800-46077600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr21:46076800-46078600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:46076800-46078800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr21:46076800-46080000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:46077000-46078200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr21:46077000-46079400	Enhancers	Dnd41	blood
11	chr21:46077200-46077800	Enhancers	Adipose Nuclei	Adipose
12	chr21:46077200-46079000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr21:46077200-46080400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr21:46077400-46077800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr21:46077400-46077800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr21:46077400-46078200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:46077400-46078200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:46077400-46080200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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