Variant report

Variant	rs12315739
Chromosome Location	chr12:123840020-123840021
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123838485..123840889-chr12:123846160..123848941,2	MCF-7	breast:
2	chr12:123839316..123842865-chr12:123843251..123845125,3	MCF-7	breast:
3	chr12:123754432..123757846-chr12:123839147..123840941,3	MCF-7	breast:
4	chr12:123839967..123842142-chr12:123869502..123871967,2	MCF-7	breast:
5	chr12:123831348..123835650-chr12:123835789..123840785,5	K562	blood:

Variant related genes	Relation type
ENSG00000111328	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000207189	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10734902	0.81[ASN][1000 genomes]
rs10744152	0.81[ASN][1000 genomes]
rs10744153	0.81[ASN][1000 genomes]
rs10744154	0.81[ASN][1000 genomes]
rs10773013	0.82[ASN][1000 genomes]
rs10773018	0.80[ASN][1000 genomes]
rs10846517	0.81[ASN][1000 genomes]
rs10846519	0.81[ASN][1000 genomes]
rs10846523	0.81[ASN][1000 genomes]
rs11057283	0.81[ASN][1000 genomes]
rs11057287	0.81[ASN][1000 genomes]
rs11612234	0.81[ASN][1000 genomes]
rs11613711	0.81[ASN][1000 genomes]
rs28418709	0.81[ASN][1000 genomes]
rs28517382	0.81[ASN][1000 genomes]
rs28594416	0.81[ASN][1000 genomes]
rs28631903	0.81[ASN][1000 genomes]
rs28703745	0.82[ASN][1000 genomes]
rs28718696	0.80[ASN][1000 genomes]
rs28759130	0.81[ASN][1000 genomes]
rs3825141	0.81[ASN][1000 genomes]
rs4759376	0.81[ASN][1000 genomes]
rs4759421	0.81[ASN][1000 genomes]
rs57416942	0.81[ASN][1000 genomes]
rs59295450	0.81[ASN][1000 genomes]
rs61751327	0.81[ASN][1000 genomes]
rs6416289	0.85[ASN][1000 genomes]
rs6488869	0.81[ASN][1000 genomes]
rs6488870	0.81[ASN][1000 genomes]
rs6488871	0.81[ASN][1000 genomes]
rs6488872	0.81[ASN][1000 genomes]
rs6488874	0.83[ASN][1000 genomes]
rs7137243	0.81[ASN][1000 genomes]
rs7297649	0.81[ASN][1000 genomes]
rs7301163	0.81[ASN][1000 genomes]
rs7310756	0.81[ASN][1000 genomes]
rs7311304	0.81[ASN][1000 genomes]
rs7484644	0.81[ASN][1000 genomes]
rs7485967	0.81[ASN][1000 genomes]
rs7486223	0.81[ASN][1000 genomes]
rs7488340	0.81[ASN][1000 genomes]
rs7952835	0.81[ASN][1000 genomes]
rs7955367	0.81[ASN][1000 genomes]
rs7959415	0.81[ASN][1000 genomes]
rs7962723	0.82[ASN][1000 genomes]
rs7970080	0.81[ASN][1000 genomes]
rs7973131	0.81[ASN][1000 genomes]
rs7973878	0.81[ASN][1000 genomes]
rs7977563	0.81[ASN][1000 genomes]
rs9284166	0.81[ASN][1000 genomes]
rs9300256	0.82[ASN][1000 genomes]
rs9300257	0.81[ASN][1000 genomes]
rs9300259	0.82[ASN][1000 genomes]
rs9669169	0.81[ASN][1000 genomes]
rs9739008	0.89[ASN][1000 genomes]
rs9739565	0.81[ASN][1000 genomes]
rs9795593	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3370803	chr12:123839485-123840173	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123807600-123845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123815600-123842000	Weak transcription	Psoas Muscle	Psoas
4	chr12:123816000-123847400	Weak transcription	Stomach Mucosa	stomach
5	chr12:123820400-123847000	Weak transcription	Fetal Brain Male	brain
6	chr12:123829000-123847400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:123829400-123840200	Weak transcription	Ovary	ovary
8	chr12:123830000-123847400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:123830000-123847400	Weak transcription	Colonic Mucosa	Colon
10	chr12:123830000-123847400	Weak transcription	NHLF	lung
11	chr12:123830200-123842200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:123830200-123847400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:123830200-123847400	Weak transcription	NHDF-Ad	bronchial
14	chr12:123830200-123847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:123830400-123840200	Weak transcription	HUVEC	blood vessel
16	chr12:123830400-123840600	Weak transcription	Small Intestine	intestine
17	chr12:123830400-123847600	Weak transcription	Aorta	Aorta
18	chr12:123830600-123847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:123830800-123840200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:123830800-123844800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:123830800-123846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:123830800-123847200	Weak transcription	Hela-S3	cervix
23	chr12:123830800-123847200	Weak transcription	HSMMtube	muscle
24	chr12:123832400-123848200	Weak transcription	Esophagus	oesophagus
25	chr12:123832600-123840200	Weak transcription	Lung	lung
26	chr12:123832600-123840200	Weak transcription	Pancreas	Pancrea
27	chr12:123832600-123840400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:123832600-123846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:123832600-123846600	Weak transcription	Spleen	Spleen
30	chr12:123832800-123841200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:123832800-123847000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:123832800-123847000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:123832800-123847200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:123832800-123847400	Weak transcription	Osteobl	bone
35	chr12:123832800-123847800	Weak transcription	Fetal Kidney	kidney
36	chr12:123833000-123840200	Weak transcription	Brain Angular Gyrus	brain
37	chr12:123833000-123841800	Weak transcription	Left Ventricle	heart
38	chr12:123833000-123847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:123833000-123847000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:123833600-123841200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123833800-123847600	Weak transcription	NH-A	brain
42	chr12:123834000-123840200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:123834000-123847000	Weak transcription	Adipose Nuclei	Adipose
44	chr12:123834200-123840200	Weak transcription	Right Ventricle	heart
45	chr12:123834200-123847000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:123834200-123847400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:123834200-123847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:123834200-123847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:123834400-123846400	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:123834600-123847400	Weak transcription	NHEK	skin

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