Variant report

Variant	rs1657054
Chromosome Location	chr12:64609906-64609907
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64609478..64611055-chr12:64611155..64613001,2	K562	blood:
2	chr12:64608996..64611761-chr12:64615123..64617494,2	K562	blood:

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17100184	0.85[ASN][1000 genomes]
rs7303085	0.83[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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
2	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
4	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
8	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
9	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
10	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
11	chr12:64586000-64611800	Weak transcription	Small Intestine	intestine
12	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
13	chr12:64588200-64613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:64588400-64613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:64588400-64613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:64588400-64614000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:64588400-64614600	Weak transcription	HMEC	breast
18	chr12:64588400-64614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:64588400-64615000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:64588400-64615000	Weak transcription	HSMM	muscle
21	chr12:64588400-64615200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:64588400-64615400	Weak transcription	Spleen	Spleen
23	chr12:64588600-64612400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:64589000-64613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:64589000-64613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:64589000-64614800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:64589000-64614800	Weak transcription	Fetal Thymus	thymus
28	chr12:64589000-64615200	Weak transcription	Fetal Intestine Large	intestine
29	chr12:64589000-64615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:64589200-64611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:64589400-64612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:64589400-64614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:64589600-64612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:64589800-64612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:64594600-64615000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:64595200-64611800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:64595200-64613000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:64597400-64615200	Weak transcription	HSMMtube	muscle
39	chr12:64597400-64615400	Weak transcription	Left Ventricle	heart
40	chr12:64598000-64613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:64598000-64614000	Weak transcription	Brain Angular Gyrus	brain
42	chr12:64598000-64614000	Weak transcription	Brain Substantia Nigra	brain
43	chr12:64598000-64615400	Weak transcription	Aorta	Aorta
44	chr12:64598200-64612400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:64598600-64613800	Weak transcription	Pancreas	Pancrea
46	chr12:64598600-64615000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:64600200-64615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:64601600-64615400	Weak transcription	Lung	lung
49	chr12:64601800-64614000	Weak transcription	HepG2	liver
50	chr12:64602000-64614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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