Variant report

Variant	rs17550567
Chromosome Location	chr7:117362167-117362168
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
ENSG00000001626	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10226236	1.00[JPT][hapmap]
rs10226907	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10230544	1.00[JPT][hapmap]
rs10231905	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10234869	1.00[JPT][hapmap]
rs10242695	1.00[JPT][hapmap]
rs10244694	0.86[ASN][1000 genomes]
rs10247163	1.00[JPT][hapmap]
rs10249419	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10254610	1.00[JPT][hapmap]
rs10258815	1.00[JPT][hapmap]
rs10266116	0.86[ASN][1000 genomes]
rs10272233	0.86[ASN][1000 genomes]
rs10274022	1.00[JPT][hapmap]
rs10276533	0.81[CEU][hapmap]
rs10278481	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1042180	0.86[ASN][1000 genomes]
rs10441245	0.86[ASN][1000 genomes]
rs10953848	1.00[ASN][1000 genomes]
rs11764070	0.86[ASN][1000 genomes]
rs11767185	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768272	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974545	1.00[ASN][1000 genomes]
rs12534210	1.00[ASN][1000 genomes]
rs12534233	1.00[ASN][1000 genomes]
rs1366912	0.86[ASN][1000 genomes]
rs1429563	0.86[ASN][1000 genomes]
rs1429568	0.86[ASN][1000 genomes]
rs1468262	0.81[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1594189	0.86[ASN][1000 genomes]
rs17140297	0.86[ASN][1000 genomes]
rs17140352	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452984	0.86[ASN][1000 genomes]
rs17549557	0.86[ASN][1000 genomes]
rs17550204	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1800136	0.86[ASN][1000 genomes]
rs1966352	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059938	1.00[ASN][1000 genomes]
rs2079178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213980	0.83[ASN][1000 genomes]
rs213981	0.83[ASN][1000 genomes]
rs213988	0.83[ASN][1000 genomes]
rs213989	0.81[CEU][hapmap];0.83[ASN][1000 genomes]
rs214159	0.86[ASN][1000 genomes]
rs214163	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs214164	0.82[CEU][hapmap];0.83[ASN][1000 genomes]
rs2188150	0.82[CEU][hapmap];0.83[ASN][1000 genomes]
rs2189388	1.00[JPT][hapmap]
rs2193258	1.00[JPT][hapmap]
rs2518879	0.80[CEU][hapmap]
rs34331324	0.86[ASN][1000 genomes]
rs34374846	0.86[ASN][1000 genomes]
rs34541842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637736	1.00[ASN][1000 genomes]
rs34665848	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34927137	0.86[ASN][1000 genomes]
rs35216437	1.00[ASN][1000 genomes]
rs35292549	0.86[ASN][1000 genomes]
rs35454880	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35871198	1.00[ASN][1000 genomes]
rs35941557	0.86[ASN][1000 genomes]
rs4500028	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730793	0.86[ASN][1000 genomes]
rs4730794	0.86[ASN][1000 genomes]
rs4730795	1.00[ASN][1000 genomes]
rs4730797	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730798	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4730799	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4730801	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4730802	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6466618	0.86[ASN][1000 genomes]
rs6466624	1.00[JPT][hapmap]
rs6943317	0.86[ASN][1000 genomes]
rs6967118	1.00[JPT][hapmap]
rs6967714	0.80[EUR][1000 genomes]
rs6973257	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6977789	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978213	1.00[JPT][hapmap]
rs6980032	0.86[ASN][1000 genomes]
rs739797	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739798	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs757278	1.00[ASN][1000 genomes]
rs7779353	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7796168	1.00[JPT][hapmap]
rs7796211	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7804816	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs929668	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	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:52 , 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	chr7:117347600-117366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:117347800-117363000	Weak transcription	Fetal Heart	heart
6	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:117350200-117373800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:117350400-117364600	Weak transcription	NHLF	lung
9	chr7:117351600-117364600	Weak transcription	Fetal Stomach	stomach
10	chr7:117351800-117366600	Weak transcription	Aorta	Aorta
11	chr7:117352400-117364800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:117352800-117368000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:117353200-117384600	Weak transcription	Ovary	ovary
14	chr7:117353400-117362200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:117353400-117367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:117354600-117373800	Weak transcription	Esophagus	oesophagus
17	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:117355800-117369400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:117356800-117376000	Weak transcription	NH-A	brain
22	chr7:117357200-117374800	Weak transcription	Pancreas	Pancrea
23	chr7:117357600-117375400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:117357800-117370800	Weak transcription	Fetal Intestine Large	intestine
25	chr7:117358200-117370000	Weak transcription	Fetal Kidney	kidney
26	chr7:117358400-117364000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:117358400-117364400	Weak transcription	Brain Angular Gyrus	brain
28	chr7:117358400-117371400	Weak transcription	Fetal Intestine Small	intestine
29	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:117358600-117368000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:117358800-117363600	Weak transcription	Fetal Brain Male	brain
32	chr7:117358800-117363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
34	chr7:117359600-117362800	Weak transcription	Fetal Lung	lung
35	chr7:117359600-117364600	Weak transcription	Brain Anterior Caudate	brain
36	chr7:117359800-117364600	Weak transcription	Brain Substantia Nigra	brain
37	chr7:117359800-117368000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:117360000-117368000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:117360200-117363800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:117360200-117364000	Weak transcription	Brain Germinal Matrix	brain
41	chr7:117360200-117374000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:117360400-117362800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:117360400-117364000	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:117360400-117364200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:117360400-117364400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:117360400-117368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:117360400-117369000	Weak transcription	Adipose Nuclei	Adipose
48	chr7:117360600-117374800	Weak transcription	Left Ventricle	heart
49	chr7:117360800-117363800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:117361600-117364000	Weak transcription	Fetal Brain Female	brain

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