Variant report

Variant	rs12713779
Chromosome Location	chr2:73167550-73167551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73162556..73166677-chr2:73167380..73171144,3	MCF-7	breast:
2	chr2:73165807..73168503-chr2:73169231..73171045,2	K562	blood:
3	chr2:73142842..73144664-chr2:73166470..73169412,2	K562	blood:

Variant related genes	Relation type
ENSG00000135638	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10185826	1.00[JPT][hapmap]
rs11126387	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12473812	1.00[JPT][hapmap]
rs17008495	0.95[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1898442	1.00[JPT][hapmap]
rs2077586	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2421097	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6722190	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746212	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999494	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73159800-73169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:73159800-73170600	Weak transcription	Aorta	Aorta
3	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:73162600-73167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:73162600-73169400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:73163800-73169400	Weak transcription	Lung	lung
7	chr2:73163800-73170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:73164000-73171200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:73164200-73179000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:73164400-73168600	Weak transcription	Liver	Liver
11	chr2:73164400-73182800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:73164400-73190600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:73164400-73192800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:73164400-73193000	Weak transcription	Ovary	ovary
15	chr2:73164400-73193600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:73164600-73169200	Weak transcription	Gastric	stomach
17	chr2:73164600-73169400	Weak transcription	Right Ventricle	heart
18	chr2:73164800-73167600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:73164800-73170200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:73165000-73169000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:73165000-73175800	Weak transcription	Esophagus	oesophagus
22	chr2:73165400-73170600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:73165600-73167600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:73166000-73169000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:73166200-73169400	Weak transcription	Fetal Brain Male	brain
26	chr2:73166200-73170000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:73166200-73170200	Weak transcription	Brain Anterior Caudate	brain
28	chr2:73166200-73210000	Weak transcription	Colonic Mucosa	Colon
29	chr2:73166400-73170200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:73166800-73170400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:73166800-73170600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:73166800-73172600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:73166800-73182400	Weak transcription	Fetal Lung	lung
34	chr2:73167000-73167600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:73167000-73168200	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:73167000-73168200	Enhancers	Fetal Muscle Leg	muscle
37	chr2:73167200-73168600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:73167200-73174400	Strong transcription	Spleen	Spleen
39	chr2:73167200-73178400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:73167400-73167600	Genic enhancers	Fetal Brain Female	brain
41	chr2:73167400-73168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:73167400-73168600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:73167400-73168800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:73167400-73168800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:73167400-73168800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:73167400-73168800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:73167400-73168800	Enhancers	NH-A	brain
48	chr2:73167400-73169000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:73167400-73169000	Enhancers	Osteobl	bone
50	chr2:73167400-73169200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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