Variant report

Variant	rs11609905
Chromosome Location	chr12:12656760-12656761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12639514..12642208-chr12:12655232..12658211,2	MCF-7	breast:
2	chr12:12652584..12654636-chr12:12656031..12658126,2	K562	blood:
3	chr12:12551116..12551741-chr12:12656082..12656861,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10845553	0.83[ASN][1000 genomes]
rs10845554	0.88[ASN][1000 genomes]
rs10845557	0.88[ASN][1000 genomes]
rs10845562	0.92[ASN][1000 genomes]
rs10845565	0.92[ASN][1000 genomes]
rs11054925	0.83[ASN][1000 genomes]
rs11054926	0.92[ASN][1000 genomes]
rs11054935	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054956	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11054957	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11612508	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368847	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12424448	0.92[ASN][1000 genomes]
rs12819116	0.92[ASN][1000 genomes]
rs17312926	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17379216	0.92[ASN][1000 genomes]
rs2417191	0.92[ASN][1000 genomes]
rs35045758	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs747726	0.82[AMR][1000 genomes]
rs888197	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	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	chr12:12636800-12656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:12639600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:12640000-12658000	Weak transcription	NHLF	lung
15	chr12:12640000-12658200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:12640000-12658200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:12640000-12658200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:12640400-12659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:12641200-12658200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:12641600-12658800	Weak transcription	HUVEC	blood vessel
21	chr12:12641600-12663600	Weak transcription	Lung	lung
22	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:12646200-12658200	Weak transcription	Aorta	Aorta
24	chr12:12646400-12658000	Weak transcription	K562	blood
25	chr12:12646800-12657400	Weak transcription	Left Ventricle	heart
26	chr12:12646800-12659200	Weak transcription	Gastric	stomach
27	chr12:12647000-12661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:12647800-12658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:12647800-12659200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:12649200-12658200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:12649200-12658200	Weak transcription	Pancreas	Pancrea
32	chr12:12649400-12658200	Weak transcription	Fetal Lung	lung
33	chr12:12649800-12658200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:12650000-12657200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:12650200-12658000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:12650400-12658600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:12650800-12658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:12652400-12659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:12652600-12658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:12653000-12658200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:12653200-12658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:12653400-12656800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:12653400-12657800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:12653400-12658000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:12653400-12658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:12653400-12658400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:12653400-12659000	Enhancers	Brain Substantia Nigra	brain
49	chr12:12653600-12658000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:12653600-12658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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