Variant report

Variant	rs10743989
Chromosome Location	chr12:12657705-12657706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12639514..12642208-chr12:12655232..12658211,2	MCF-7	breast:
2	chr12:12652584..12654636-chr12:12656031..12658126,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10743988	0.82[AFR][1000 genomes]
rs10845562	0.83[EUR][1000 genomes]
rs10845563	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845567	0.81[AMR][1000 genomes]
rs11054937	0.81[AFR][1000 genomes]
rs11054941	0.82[AFR][1000 genomes]
rs12424448	0.82[EUR][1000 genomes]
rs12819116	0.82[EUR][1000 genomes]
rs17312926	0.80[EUR][1000 genomes]
rs2287206	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2417189	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2417191	0.81[EUR][1000 genomes]
rs4255620	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs744170	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs747726	0.83[EUR][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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12630600-12661200	Weak transcription	NHEK	skin
3	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
6	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
7	chr12:12632800-12658200	Weak transcription	Ovary	ovary
8	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
9	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
10	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
11	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:12639600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:12640000-12658000	Weak transcription	NHLF	lung
14	chr12:12640000-12658200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:12640000-12658200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:12640000-12658200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:12640400-12659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:12641200-12658200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:12641600-12658800	Weak transcription	HUVEC	blood vessel
20	chr12:12641600-12663600	Weak transcription	Lung	lung
21	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:12646200-12658200	Weak transcription	Aorta	Aorta
23	chr12:12646400-12658000	Weak transcription	K562	blood
24	chr12:12646800-12659200	Weak transcription	Gastric	stomach
25	chr12:12647000-12661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:12647800-12658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:12647800-12659200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:12649200-12658200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:12649200-12658200	Weak transcription	Pancreas	Pancrea
30	chr12:12649400-12658200	Weak transcription	Fetal Lung	lung
31	chr12:12649800-12658200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:12650200-12658000	Weak transcription	Brain Anterior Caudate	brain
33	chr12:12650400-12658600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:12650800-12658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:12652400-12659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:12652600-12658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:12653000-12658200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:12653200-12658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:12653400-12657800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:12653400-12658000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:12653400-12658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:12653400-12658400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:12653400-12659000	Enhancers	Brain Substantia Nigra	brain
45	chr12:12653600-12658000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:12653600-12658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:12653600-12658200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:12653600-12658200	Weak transcription	Thymus	Thymus
49	chr12:12653800-12658000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:12653800-12658000	Weak transcription	Liver	Liver

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