Variant report

Variant	rs577733731
Chromosome Location	chr12:121331124-121331125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121324943..121326545-chr12:121329640..121331374,2	K562	blood:
2	chr12:121330698..121332432-chr12:121341997..121343765,2	K562	blood:
3	chr12:121321411..121324329-chr12:121329045..121331159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

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

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv975642	chr12:121330910-121340230	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
9	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:121313400-121332400	Weak transcription	Lung	lung
11	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
13	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
15	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:121317600-121331400	Weak transcription	HepG2	liver
18	chr12:121317600-121339600	Weak transcription	HMEC	breast
19	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:121318200-121339600	Weak transcription	NHEK	skin
21	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
23	chr12:121323600-121331400	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:121323600-121332200	Weak transcription	Stomach Mucosa	stomach
25	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
26	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:121324400-121331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:121324400-121334000	Weak transcription	Small Intestine	intestine
29	chr12:121324400-121339600	Weak transcription	Brain Substantia Nigra	brain
30	chr12:121324400-121339800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:121324600-121339400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:121325000-121331800	Weak transcription	Placenta	Placenta
33	chr12:121325400-121332400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:121325400-121335200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121325400-121335800	Weak transcription	Thymus	Thymus
36	chr12:121325800-121331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:121325800-121338000	Weak transcription	Fetal Brain Female	brain
38	chr12:121325800-121339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:121326000-121339800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:121326400-121333400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:121326800-121331800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:121327400-121331400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:121327400-121331400	Weak transcription	Left Ventricle	heart
45	chr12:121328000-121331800	Weak transcription	Spleen	Spleen
46	chr12:121328200-121331800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:121328200-121339800	Weak transcription	NHLF	lung
48	chr12:121328600-121332400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:121328800-121331200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:121328800-121331400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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