Variant report

Variant	rs747454
Chromosome Location	chr6:71130330-71130331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71128232..71130980-chr6:71131926..71135967,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10080714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs10485117	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16869217	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869242	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869261	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869301	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2207424	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2223997	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs28555262	0.84[AFR][1000 genomes]
rs28885692	0.84[AFR][1000 genomes]
rs3846749	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446243	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs9446247	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446253	0.86[AFR][1000 genomes]
rs9446255	0.95[AFR][1000 genomes]
rs9446256	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446257	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446259	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446260	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446261	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446262	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446263	0.82[AFR][1000 genomes]
rs9446264	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446265	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446266	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455091	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	0.93[YRI][hapmap]
rs9455102	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455109	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455110	0.95[AFR][1000 genomes]
rs9455112	0.95[AFR][1000 genomes]
rs9455115	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455116	0.95[AFR][1000 genomes]
rs9455117	0.90[AFR][1000 genomes]
rs9455118	0.88[AFR][1000 genomes]
rs9455119	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455120	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455122	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455123	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455124	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455126	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455127	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455128	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455131	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455134	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455135	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455136	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455137	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455141	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455142	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455143	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455145	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455146	0.85[AFR][1000 genomes]
rs9455147	0.84[AFR][1000 genomes]
rs9455148	0.84[AFR][1000 genomes]
rs9455152	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455154	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455155	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455157	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455159	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71124200-71133400	Weak transcription	Small Intestine	intestine
3	chr6:71124200-71136200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:71124200-71136200	Weak transcription	Pancreas	Pancrea
5	chr6:71124200-71137800	Weak transcription	HSMMtube	muscle
6	chr6:71124200-71141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:71124200-71141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
11	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:71124400-71131200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:71124400-71136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:71124400-71138400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:71124400-71139000	Weak transcription	Liver	Liver
16	chr6:71124400-71140400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:71124400-71143000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:71124400-71143200	Weak transcription	Psoas Muscle	Psoas
19	chr6:71124400-71148800	Weak transcription	NHLF	lung
20	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:71124600-71130400	Weak transcription	Thymus	Thymus
25	chr6:71124600-71136200	Weak transcription	Right Ventricle	heart
26	chr6:71124600-71139600	Weak transcription	Ovary	ovary
27	chr6:71124600-71140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:71124600-71140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:71124600-71141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:71124600-71142600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:71124600-71142800	Weak transcription	NHDF-Ad	bronchial
32	chr6:71124600-71145000	Weak transcription	HUVEC	blood vessel
33	chr6:71124600-71157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:71124600-71157800	Weak transcription	Colonic Mucosa	Colon
35	chr6:71125000-71133000	Weak transcription	Primary T cells from cord blood	blood
36	chr6:71125000-71133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:71125000-71139400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:71125000-71140000	Weak transcription	Fetal Brain Female	brain
39	chr6:71125000-71145000	Weak transcription	Fetal Thymus	thymus
40	chr6:71125000-71147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:71125000-71148400	Weak transcription	Brain Germinal Matrix	brain
42	chr6:71125000-71148800	Weak transcription	Fetal Brain Male	brain
43	chr6:71125200-71136200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:71125200-71140000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:71125200-71140200	Weak transcription	Brain Anterior Caudate	brain
46	chr6:71125200-71142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:71125400-71188800	Weak transcription	HSMM	muscle
49	chr6:71125600-71131400	Weak transcription	Primary B cells from cord blood	blood
50	chr6:71125600-71132800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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