Variant report

Variant	rs17635123
Chromosome Location	chr7:50575975-50575976
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	chr7:50570130..50572623-chr7:50573822..50576522,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	0.93[ASN][1000 genomes]
rs10499691	0.93[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107743	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575338	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575442	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575521	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575548	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575553	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11575562	0.93[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11976368	0.93[ASN][1000 genomes]
rs11978591	0.93[ASN][1000 genomes]
rs1349491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133817	0.93[ASN][1000 genomes]
rs17133826	0.93[ASN][1000 genomes]
rs17553036	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	0.93[ASN][1000 genomes]
rs17634717	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100279	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2122817	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242041	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2329367	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329369	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.89[ASN][1000 genomes]
rs2876830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs34672220	0.84[ASN][1000 genomes]
rs35399233	0.84[ASN][1000 genomes]
rs3779081	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779084	0.82[CHB][hapmap]
rs3807550	0.80[CHB][hapmap]
rs3807551	0.80[CHB][hapmap]
rs3807553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4602840	0.86[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056130	0.93[ASN][1000 genomes]
rs61016409	0.84[ASN][1000 genomes]
rs6944090	0.90[CHB][hapmap]
rs6959427	0.89[ASN][1000 genomes]
rs71018475	0.87[ASN][1000 genomes]
rs73117270	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119230	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119239	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119245	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119251	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121282	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121285	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121287	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121290	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121292	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123220	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123247	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123249	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123251	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123254	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123257	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123261	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123264	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123266	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123283	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73123285	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73123291	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73125208	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73125215	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73125225	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73695642	0.93[ASN][1000 genomes]
rs73695660	0.93[ASN][1000 genomes]
rs73695663	0.93[ASN][1000 genomes]
rs7455944	0.84[ASN][1000 genomes]
rs7777600	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs7797772	0.84[ASN][1000 genomes]
rs880028	0.82[CHB][hapmap]
rs896308	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656664	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
5	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
6	chr7:50569000-50592800	Weak transcription	HepG2	liver
7	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:50571000-50576000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
10	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
11	chr7:50571200-50576000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:50571800-50576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:50572400-50577000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr7:50573000-50577000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:50575400-50578000	Strong transcription	Fetal Intestine Large	intestine
16	chr7:50575600-50576600	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:50575600-50576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:50575600-50576800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:50575600-50577000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:50575600-50577000	Enhancers	Psoas Muscle	Psoas
21	chr7:50575600-50577200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:50575600-50577200	Enhancers	Fetal Thymus	thymus
23	chr7:50575800-50576400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:50575800-50576400	Enhancers	Thymus	Thymus
25	chr7:50575800-50576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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