Variant report

Variant	rs7314501
Chromosome Location	chr12:50637563-50637564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50633929..50638139-chr12:50638624..50643008,10	K562	blood:
2	chr12:50616972..50619488-chr12:50635232..50637838,2	MCF-7	breast:
3	chr12:50637253..50639718-chr12:50676193..50678822,2	MCF-7	breast:
4	chr12:50637092..50639387-chr12:50653730..50656113,2	K562	blood:
5	chr12:50635476..50638382-chr12:50642696..50644913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203433	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10083076	1.00[MEX][hapmap]
rs12302465	1.00[MEX][hapmap]
rs12308745	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312218	1.00[MEX][hapmap]
rs12313920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50616800-50641600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:50617600-50638400	Weak transcription	Brain Germinal Matrix	brain
4	chr12:50618600-50638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:50618600-50640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:50623000-50638400	Weak transcription	Fetal Brain Female	brain
7	chr12:50627600-50644600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:50628800-50640800	Weak transcription	Esophagus	oesophagus
9	chr12:50631400-50638200	Weak transcription	Fetal Stomach	stomach
10	chr12:50631400-50638400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:50633200-50637600	Enhancers	Fetal Muscle Leg	muscle
12	chr12:50633200-50651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50633400-50638400	Enhancers	Placenta	Placenta
14	chr12:50633600-50643400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:50634000-50637600	Enhancers	HepG2	liver
16	chr12:50634000-50640200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:50634200-50641000	Weak transcription	Lung	lung
18	chr12:50634200-50643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:50634600-50648200	Weak transcription	Spleen	Spleen
20	chr12:50634800-50640400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:50635000-50637600	Enhancers	K562	blood
22	chr12:50635000-50637600	Enhancers	NHEK	skin
23	chr12:50635200-50637600	Enhancers	HSMM	muscle
24	chr12:50635400-50637600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:50635600-50637600	Enhancers	A549	lung
26	chr12:50635600-50640000	Weak transcription	Psoas Muscle	Psoas
27	chr12:50635600-50640200	Weak transcription	Liver	Liver
28	chr12:50635600-50642400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:50635600-50646600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:50636000-50637600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:50636000-50637600	Enhancers	HMEC	breast
32	chr12:50636000-50643000	Genic enhancers	Fetal Intestine Large	intestine
33	chr12:50636200-50637600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:50636200-50637800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:50636200-50639000	Genic enhancers	Fetal Intestine Small	intestine
36	chr12:50636200-50651200	Weak transcription	Fetal Kidney	kidney
37	chr12:50636400-50637600	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr12:50636400-50637600	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr12:50636400-50638400	Weak transcription	Fetal Lung	lung
40	chr12:50636400-50640800	Weak transcription	Pancreas	Pancrea
41	chr12:50636400-50641200	Weak transcription	Right Ventricle	heart
42	chr12:50636600-50637600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:50636600-50637600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:50636600-50637600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:50636600-50637600	Enhancers	HSMMtube	muscle
46	chr12:50636600-50637600	Enhancers	NH-A	brain
47	chr12:50636600-50637800	Enhancers	NHLF	lung
48	chr12:50636600-50638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:50636600-50638400	Weak transcription	Colonic Mucosa	Colon
50	chr12:50636600-50638400	Weak transcription	Rectal Mucosa Donor 29	rectum

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