Variant report

Variant	rs9294867
Chromosome Location	chr6:71125216-71125217
allele	A/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	TBP	chr6:71124849-71125311	GM12878	blood:	n/a	n/a
2	EBF1	chr6:71125045-71125478	GM12878	blood:	n/a	n/a
3	FOS	chr6:71125079-71125713	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:71125014-71125354	GM12878	blood:	n/a	chr6:71125093-71125107
5	CHD1	chr6:71124968-71125390	GM12878	blood:	n/a	n/a
6	ZNF384	chr6:71124716-71125334	GM12878	blood:	n/a	n/a
7	FOS	chr6:71125072-71125932	MCF10A-Er-Src	breast:	n/a	n/a
8	RUNX3	chr6:71124954-71125340	GM12878	blood:	n/a	n/a
9	IRF1	chr6:71125199-71125548	K562	blood:	n/a	n/a
10	JUND	chr6:71125056-71125714	K562	blood:	n/a	chr6:71125516-71125527
11	NFIC	chr6:71124911-71125347	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71124304..71127222-chr6:71142586..71144207,2	K562	blood:

Variant related genes	Relation type
ENSG00000224349	TF binding region

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

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

rs_ID	r²[population]
rs10080714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs10485117	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs16869217	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs16869242	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs16869261	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs16869301	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2207424	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2223997	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs28555262	0.81[AFR][1000 genomes]
rs28885692	0.81[AFR][1000 genomes]
rs3846749	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9446243	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446247	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9446253	0.84[AFR][1000 genomes]
rs9446255	0.93[AFR][1000 genomes]
rs9446256	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9446257	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9446259	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9446260	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446261	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446262	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446264	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9446265	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446266	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9446277	0.92[LWK][hapmap]
rs9455091	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	0.91[YRI][hapmap]
rs9455102	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455109	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455110	0.93[AFR][1000 genomes]
rs9455112	0.93[AFR][1000 genomes]
rs9455115	0.89[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455116	0.93[AFR][1000 genomes]
rs9455117	0.88[AFR][1000 genomes]
rs9455118	0.86[AFR][1000 genomes]
rs9455119	0.88[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455120	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455122	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455123	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455124	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455126	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455127	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455128	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455131	0.86[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455134	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455135	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455136	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455137	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455141	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455142	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455143	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455145	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455146	0.83[AFR][1000 genomes]
rs9455147	0.81[AFR][1000 genomes]
rs9455148	0.81[AFR][1000 genomes]
rs9455152	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455154	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455155	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455157	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455159	0.86[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71122000-71126200	Active TSS	GM12878-XiMat	blood
2	chr6:71122200-71125400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:71122400-71125400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:71122400-71126200	Active TSS	Fetal Intestine Small	intestine
5	chr6:71122600-71126000	Active TSS	Fetal Intestine Large	intestine
6	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:71124200-71128200	Weak transcription	Gastric	stomach
8	chr6:71124200-71128200	Weak transcription	Lung	lung
9	chr6:71124200-71129800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:71124200-71133400	Weak transcription	Small Intestine	intestine
11	chr6:71124200-71136200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:71124200-71136200	Weak transcription	Pancreas	Pancrea
13	chr6:71124200-71137800	Weak transcription	HSMMtube	muscle
14	chr6:71124200-71141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:71124200-71141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
19	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:71124400-71125400	Enhancers	Colon Smooth Muscle	Colon
21	chr6:71124400-71125400	Weak transcription	Stomach Mucosa	stomach
22	chr6:71124400-71125400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:71124400-71125600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:71124400-71125600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:71124400-71125600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:71124400-71127000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:71124400-71127400	Weak transcription	Placenta	Placenta
28	chr6:71124400-71128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:71124400-71128000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:71124400-71128200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:71124400-71128200	Weak transcription	Aorta	Aorta
32	chr6:71124400-71128200	Weak transcription	Esophagus	oesophagus
33	chr6:71124400-71128200	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:71124400-71128200	Weak transcription	Left Ventricle	heart
35	chr6:71124400-71131200	Weak transcription	Brain Substantia Nigra	brain
36	chr6:71124400-71136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:71124400-71138400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:71124400-71139000	Weak transcription	Liver	Liver
39	chr6:71124400-71140400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:71124400-71143000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:71124400-71143200	Weak transcription	Psoas Muscle	Psoas
42	chr6:71124400-71148800	Weak transcription	NHLF	lung
43	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:71124600-71125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:71124600-71125400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:71124600-71125400	Enhancers	Dnd41	blood
50	chr6:71124600-71125600	Enhancers	Primary B cells from cord blood	blood

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