Variant report

Variant	rs740962
Chromosome Location	chr7:121438897-121438898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121429116..121430953-chr7:121436984..121439229,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1007522	0.80[JPT][hapmap]
rs1007784	0.81[JPT][hapmap]
rs1014171	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238474	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10238868	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10256242	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11766572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766594	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766616	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11768615	0.82[EUR][1000 genomes]
rs11978007	0.85[JPT][hapmap]
rs11983105	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1206473	0.80[JPT][hapmap]
rs1206477	0.81[JPT][hapmap]
rs1206481	0.81[JPT][hapmap]
rs1206483	0.81[JPT][hapmap]
rs12111892	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12535478	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12540905	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13231796	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13243402	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916880	0.86[JPT][hapmap]
rs1916886	0.85[JPT][hapmap]
rs1916888	0.85[JPT][hapmap]
rs1916889	0.86[JPT][hapmap]
rs2024249	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs2052131	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052132	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052134	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2109764	0.94[EUR][1000 genomes]
rs2402589	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757549	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs3757550	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4731038	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs740961	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740963	0.80[EUR][1000 genomes]
rs740964	0.80[JPT][hapmap]
rs7797305	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7802916	0.80[EUR][1000 genomes]
rs960539	0.81[CHB][hapmap];0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121433800-121442400	Enhancers	HMEC	breast
2	chr7:121434000-121440200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:121434000-121440200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:121435400-121440000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:121435600-121439800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:121435800-121440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:121435800-121440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:121436000-121440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:121436000-121440800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:121436000-121441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:121436200-121440600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:121436400-121444000	Enhancers	NHEK	skin
13	chr7:121436600-121440200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:121436600-121442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:121436800-121439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:121437200-121439800	Enhancers	Brain Substantia Nigra	brain
17	chr7:121437200-121440000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:121437400-121439000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:121437400-121439600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:121437400-121439800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:121437600-121439400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:121437600-121440000	Enhancers	Fetal Brain Male	brain
23	chr7:121437600-121440000	Enhancers	Fetal Lung	lung
24	chr7:121437800-121439400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:121438000-121440200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:121438200-121439200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:121438200-121440000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:121438200-121440000	Enhancers	Fetal Brain Female	brain
29	chr7:121438400-121439800	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:121438600-121439000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:121438600-121439000	Enhancers	Brain Anterior Caudate	brain
32	chr7:121438800-121439000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:121438800-121439000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:121438800-121439200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:121438800-121439600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:121438800-121439600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:121438800-121440000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:121438800-121440000	Enhancers	Brain Hippocampus Middle	brain
39	chr7:121438800-121440200	Enhancers	Brain Germinal Matrix	brain
40	chr7:121438800-121441400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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