Variant report

Variant	rs11774947
Chromosome Location	chr8:131296023-131296024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131295881..131297673-chr8:131355533..131357143,2	K562	blood:
2	chr8:131293646..131296151-chr8:131296609..131298187,2	MCF-7	breast:
3	chr8:131295924..131298030-chr8:131301524..131303913,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10091313	0.80[CHB][hapmap]
rs10113410	0.92[CHD][hapmap]
rs1017281	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10956511	0.85[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs10956514	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1118887	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1158570	0.81[CHD][hapmap]
rs11774690	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775292	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546206	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs13258946	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13265869	0.88[EUR][1000 genomes]
rs13269464	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs1340021	0.85[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1340022	0.87[CHD][hapmap]
rs1469288	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1538728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17212137	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs17285138	0.81[ASN][1000 genomes]
rs1978550	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005040	0.81[ASN][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2185366	0.82[CEU][hapmap]
rs2554369	0.81[CHD][hapmap]
rs2554373	0.80[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap]
rs2894508	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34656350	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3935174	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4733571	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs4733572	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733768	0.85[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733770	0.83[ASN][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs4733776	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733777	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4733780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs62524640	0.83[ASN][1000 genomes]
rs62525919	0.87[EUR][1000 genomes]
rs62525923	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62525931	0.87[EUR][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs6470802	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs6470805	0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6470815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6992305	0.80[CHB][hapmap]
rs7002892	0.86[CHD][hapmap]
rs7004884	0.81[CHD][hapmap]
rs7012705	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7015970	0.80[CHB][hapmap]
rs7018225	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464885	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs7832651	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.85[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs7846376	0.81[CHD][hapmap]
rs876575	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9643252	0.81[CHB][hapmap]
rs966185	0.80[CHB][hapmap];0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:131282400-131314800	Weak transcription	Gastric	stomach
3	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:131288800-131296200	Weak transcription	K562	blood
5	chr8:131288800-131296600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:131289000-131299600	Weak transcription	Pancreas	Pancrea
7	chr8:131289400-131297000	Weak transcription	Fetal Lung	lung
8	chr8:131289400-131300000	Weak transcription	Fetal Brain Female	brain
9	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:131289600-131296800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:131289600-131296800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131289600-131296800	Weak transcription	Fetal Stomach	stomach
14	chr8:131289600-131296800	Weak transcription	Right Atrium	heart
15	chr8:131289600-131296800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:131289600-131300200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131289600-131300200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:131290200-131299600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:131291600-131297000	Weak transcription	Aorta	Aorta
23	chr8:131291800-131296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:131291800-131296200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:131291800-131296600	Weak transcription	Small Intestine	intestine
26	chr8:131291800-131296800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:131291800-131296800	Weak transcription	Right Ventricle	heart
28	chr8:131291800-131296800	Weak transcription	Spleen	Spleen
29	chr8:131291800-131300200	Weak transcription	Placenta	Placenta
30	chr8:131291800-131302400	Weak transcription	Left Ventricle	heart
31	chr8:131291800-131305400	Weak transcription	Lung	lung
32	chr8:131292200-131296200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:131292200-131296200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:131292200-131296800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:131292400-131296200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:131292600-131296200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:131292600-131296400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:131292600-131296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:131292600-131297600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:131292600-131298000	Weak transcription	NHEK	skin
41	chr8:131292600-131301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:131292600-131303000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:131292800-131296200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:131292800-131296200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:131292800-131296200	Weak transcription	Fetal Thymus	thymus
46	chr8:131292800-131296200	Weak transcription	Thymus	Thymus
47	chr8:131292800-131296200	Weak transcription	HSMMtube	muscle
48	chr8:131292800-131296600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:131292800-131296600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:131292800-131296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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