Variant report

Variant	rs10506468
Chromosome Location	chr12:63321134-63321135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63320284..63321871-chr12:63327495..63329179,2	K562	blood:
2	chr12:63312289..63315021-chr12:63318945..63321153,2	MCF-7	breast:
3	chr12:63319352..63321356-chr12:63324432..63326785,2	K562	blood:
4	chr12:62997417..63000223-chr12:63319548..63321193,2	MCF-7	breast:
5	chr12:63307451..63310079-chr12:63319442..63322699,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11174723	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11174731	0.96[EUR][1000 genomes]
rs12301080	0.96[EUR][1000 genomes]
rs12302398	1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs12302449	1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs12304611	0.96[EUR][1000 genomes]
rs12311870	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs12314057	0.88[EUR][1000 genomes]
rs12315582	0.96[EUR][1000 genomes]
rs12316918	1.00[EUR][1000 genomes]
rs1250152	0.85[EUR][1000 genomes]
rs13377803	0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs13378081	0.81[ASN][1000 genomes]
rs1666909	0.88[EUR][1000 genomes]
rs1681992	0.88[EUR][1000 genomes]
rs1681993	0.95[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1681994	0.88[EUR][1000 genomes]
rs1695023	0.88[EUR][1000 genomes]
rs17098649	0.88[EUR][1000 genomes]
rs1731665	1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1731667	0.91[ASN][1000 genomes]
rs2019497	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2173441	0.84[GIH][hapmap]
rs2442110	1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs36183582	0.85[ASN][1000 genomes]
rs3858674	0.96[EUR][1000 genomes]
rs3858675	0.88[EUR][1000 genomes]
rs58389317	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58869921	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699587	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314488	0.88[EUR][1000 genomes]
rs7314892	0.88[EUR][1000 genomes]
rs7315141	0.88[EUR][1000 genomes]
rs7977184	0.81[ASN][1000 genomes]
rs7977300	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63309600-63323400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63312000-63325000	Weak transcription	K562	blood
3	chr12:63313400-63322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:63313600-63326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:63313800-63327000	Weak transcription	Left Ventricle	heart
6	chr12:63314000-63324800	Weak transcription	Hela-S3	cervix
7	chr12:63314000-63326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63314000-63327000	Weak transcription	Gastric	stomach
9	chr12:63314200-63322200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:63314200-63327000	Weak transcription	Aorta	Aorta
11	chr12:63316600-63322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:63316800-63321800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:63316800-63322200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:63316800-63324400	Weak transcription	Osteobl	bone
15	chr12:63317000-63321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:63317000-63322000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:63317000-63322000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:63317000-63322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:63317000-63322400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:63317000-63324600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:63317000-63325200	Weak transcription	Fetal Intestine Large	intestine
22	chr12:63317600-63323200	Weak transcription	Brain Angular Gyrus	brain
23	chr12:63317600-63324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:63318200-63322200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:63318400-63323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:63318800-63322200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:63319400-63322200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:63319800-63323800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:63320000-63323400	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:63320000-63323600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:63320000-63324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:63320400-63321800	Weak transcription	HepG2	liver
33	chr12:63320800-63322400	Weak transcription	Brain Substantia Nigra	brain

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