Variant report

Variant	rs4665161
Chromosome Location	chr2:161060062-161060063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:161060038-161060425	ECC-1	luminal epithelium:	n/a	chr2:161060196-161060205
2	REST	chr2:161060048-161060299	SK-N-SH	brain:	n/a	chr2:161060196-161060205
3	REST	chr2:161060017-161060421	ECC-1	luminal epithelium:	n/a	chr2:161060196-161060205

No.	Distal block	Cell Line	Cell type
1	chr2:161057163..161059631-chr2:161060006..161062265,2	K562	blood:
2	chr2:160968652..160971180-chr2:161059515..161062161,2	MCF-7	breast:
3	chr2:161047917..161051617-chr2:161059788..161062483,3	K562	blood:

Variant related genes	Relation type
ITGB6	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10497213	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10929965	0.90[JPT][hapmap]
rs13001911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16844848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16844866	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844875	0.85[JPT][hapmap]
rs17216980	0.95[JPT][hapmap]
rs17218566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17241282	0.81[JPT][hapmap]
rs17341301	0.86[JPT][hapmap]
rs17830904	0.81[JPT][hapmap]
rs17831161	0.91[JPT][hapmap]
rs17831191	0.91[JPT][hapmap]
rs17831251	0.90[JPT][hapmap]
rs1870102	0.93[ASN][1000 genomes]
rs1870104	0.94[ASN][1000 genomes]
rs2124969	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2175416	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2198918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2305818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305819	0.93[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs3749117	0.81[JPT][hapmap]
rs3749119	0.90[JPT][hapmap]
rs3792192	0.81[JPT][hapmap]
rs4292050	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4664308	0.90[JPT][hapmap]
rs4664317	0.83[ASN][1000 genomes]
rs4665138	0.81[JPT][hapmap]
rs4665140	0.82[JPT][hapmap]
rs4665141	0.82[JPT][hapmap]
rs4665147	0.90[JPT][hapmap]
rs4665162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs55959207	0.90[ASN][1000 genomes]
rs57993273	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59019419	0.99[ASN][1000 genomes]
rs59541669	0.91[ASN][1000 genomes]
rs60608133	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60801510	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60908067	0.80[ASN][1000 genomes]
rs61330151	0.92[ASN][1000 genomes]
rs62175395	0.95[ASN][1000 genomes]
rs6705574	0.86[JPT][hapmap]
rs6707458	0.90[JPT][hapmap]
rs6719686	0.91[JPT][hapmap]
rs6722275	0.81[JPT][hapmap]
rs6731260	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6732107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6739867	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs6759836	0.91[JPT][hapmap]
rs72623108	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72623109	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72623111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733810	0.92[ASN][1000 genomes]
rs7589820	0.87[ASN][1000 genomes]
rs7595859	0.95[ASN][1000 genomes]
rs877200	0.90[JPT][hapmap]
rs925410	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:161048600-161061600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:161050400-161061200	Weak transcription	Esophagus	oesophagus
4	chr2:161051800-161064600	Weak transcription	Lung	lung
5	chr2:161052200-161064600	Weak transcription	Gastric	stomach
6	chr2:161053200-161064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:161055800-161061400	Weak transcription	Stomach Mucosa	stomach
8	chr2:161056800-161061600	Weak transcription	Colonic Mucosa	Colon
9	chr2:161056800-161061600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:161057000-161060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:161057000-161061000	Weak transcription	NHEK	skin
12	chr2:161057000-161061400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:161057000-161061800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:161057000-161062400	Enhancers	HMEC	breast
15	chr2:161057600-161064200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:161058200-161063200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:161058400-161061600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:161058400-161062400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:161058800-161060200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:161059000-161061200	Weak transcription	NH-A	brain
21	chr2:161059200-161060200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:161059200-161061200	Weak transcription	HSMM	muscle
23	chr2:161059200-161065200	Weak transcription	Psoas Muscle	Psoas
24	chr2:161059400-161061600	Weak transcription	HSMMtube	muscle
25	chr2:161059400-161061800	Weak transcription	Aorta	Aorta
26	chr2:161059600-161061000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:161059600-161068000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:161059800-161060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:161059800-161060600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:161060000-161060200	Enhancers	GM12878-XiMat	blood
31	chr2:161060000-161062600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:161060000-161066200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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