Variant report

Variant	rs6466619
Chromosome Location	chr7:117357909-117357910
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	7:117100350-117112126..7:117356953-117362271	H1-hESC	embryonic stem cell:	embryo
2	7:115890993-115892266..7:117356953-117362271	GM12878	blood:
3	chr7:117356959..117359693-chr7:117361540..117364405,2	K562	blood:
4	7:115861595-115870968..7:117356953-117362271	GM12878	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10266794	0.81[ASN][1000 genomes]
rs117243	0.88[YRI][hapmap]
rs1208524	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1208525	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1208526	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1208528	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2106155	0.88[YRI][hapmap]
rs213953	0.88[YRI][hapmap]
rs213963	0.88[YRI][hapmap]
rs213964	0.88[YRI][hapmap]
rs213965	0.87[YRI][hapmap]
rs213966	0.88[YRI][hapmap]
rs213967	0.88[YRI][hapmap]
rs213968	0.88[YRI][hapmap]
rs213971	0.87[YRI][hapmap]
rs213977	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs214152	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402229	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34445757	0.82[ASN][1000 genomes]
rs3735645	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970681	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6978581	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7777807	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784537	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7793030	0.87[JPT][hapmap]
rs975722	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117327000-117376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:117344400-117364400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:117346600-117373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:117347000-117358000	Weak transcription	Fetal Brain Male	brain
5	chr7:117347600-117366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:117347800-117363000	Weak transcription	Fetal Heart	heart
7	chr7:117349000-117359000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:117350200-117373800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:117350400-117364600	Weak transcription	NHLF	lung
11	chr7:117351600-117364600	Weak transcription	Fetal Stomach	stomach
12	chr7:117351800-117366600	Weak transcription	Aorta	Aorta
13	chr7:117352400-117364800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:117352800-117368000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:117353200-117384600	Weak transcription	Ovary	ovary
16	chr7:117353400-117362200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:117353400-117367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:117354000-117361600	Strong transcription	Fetal Brain Female	brain
19	chr7:117354600-117373800	Weak transcription	Esophagus	oesophagus
20	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:117355800-117358400	Enhancers	Fetal Intestine Small	intestine
23	chr7:117355800-117358400	Enhancers	Stomach Mucosa	stomach
24	chr7:117355800-117359400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:117355800-117369400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:117356400-117358000	Weak transcription	Brain Angular Gyrus	brain
28	chr7:117356400-117358800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:117356800-117360200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:117356800-117362000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:117356800-117376000	Weak transcription	NH-A	brain
32	chr7:117357000-117358600	Genic enhancers	Brain Anterior Caudate	brain
33	chr7:117357000-117359600	Strong transcription	Fetal Lung	lung
34	chr7:117357000-117360400	Strong transcription	Adipose Nuclei	Adipose
35	chr7:117357000-117360400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:117357200-117358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:117357200-117359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:117357200-117360000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:117357200-117360400	Strong transcription	Brain Hippocampus Middle	brain
40	chr7:117357200-117374800	Weak transcription	Pancreas	Pancrea
41	chr7:117357400-117358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:117357400-117358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:117357400-117360400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:117357400-117361600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:117357600-117358200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:117357600-117358200	Enhancers	Fetal Kidney	kidney
47	chr7:117357600-117358400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:117357600-117358600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:117357600-117360400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:117357600-117375400	Weak transcription	Duodenum Mucosa	Duodenum

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