Variant report

Variant	rs9294870
Chromosome Location	chr6:71140860-71140861
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	chr6:71139434..71142286-chr6:71311712..71314259,2	K562	blood:
2	chr6:71135009..71137971-chr6:71140513..71142293,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082269	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10080714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10485117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs16869217	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869242	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869261	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869301	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs2207424	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs2223997	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs28555262	0.91[AFR][1000 genomes]
rs28885692	0.91[AFR][1000 genomes]
rs3846749	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9294875	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs9446247	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446253	0.93[AFR][1000 genomes]
rs9446255	0.88[AFR][1000 genomes]
rs9446256	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446257	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446259	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446260	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446261	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446262	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446263	0.88[AFR][1000 genomes]
rs9446264	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446265	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446266	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455091	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	1.00[YRI][hapmap]
rs9455102	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455109	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455110	0.88[AFR][1000 genomes]
rs9455112	0.88[AFR][1000 genomes]
rs9455115	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455116	0.88[AFR][1000 genomes]
rs9455117	0.84[AFR][1000 genomes]
rs9455118	0.95[AFR][1000 genomes]
rs9455119	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455120	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455122	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455123	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455124	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455126	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455127	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455128	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455131	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455134	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455135	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455136	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455137	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455141	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455142	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455143	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455145	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455146	0.84[AFR][1000 genomes]
rs9455147	0.91[AFR][1000 genomes]
rs9455148	0.91[AFR][1000 genomes]
rs9455152	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455154	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455155	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455157	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455159	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv966632	chr6:71138127-71144459	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 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	chr6:71124200-71141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:71124200-71141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
7	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:71124400-71143000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:71124400-71143200	Weak transcription	Psoas Muscle	Psoas
10	chr6:71124400-71148800	Weak transcription	NHLF	lung
11	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:71124600-71141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:71124600-71142600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:71124600-71142800	Weak transcription	NHDF-Ad	bronchial
18	chr6:71124600-71145000	Weak transcription	HUVEC	blood vessel
19	chr6:71124600-71157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:71124600-71157800	Weak transcription	Colonic Mucosa	Colon
21	chr6:71125000-71145000	Weak transcription	Fetal Thymus	thymus
22	chr6:71125000-71147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:71125000-71148400	Weak transcription	Brain Germinal Matrix	brain
24	chr6:71125000-71148800	Weak transcription	Fetal Brain Male	brain
25	chr6:71125200-71142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:71125400-71188800	Weak transcription	HSMM	muscle
28	chr6:71125600-71143000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:71125600-71162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:71126000-71157800	Weak transcription	Dnd41	blood
31	chr6:71128600-71156800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:71128800-71154800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:71128800-71157800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:71130000-71141000	Weak transcription	Left Ventricle	heart
35	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
36	chr6:71130200-71185400	Weak transcription	K562	blood
37	chr6:71131400-71148400	Weak transcription	GM12878-XiMat	blood
38	chr6:71133800-71146600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:71134000-71141600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:71134000-71148200	Weak transcription	Fetal Kidney	kidney
41	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:71134200-71161400	Weak transcription	Small Intestine	intestine
43	chr6:71134600-71149200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:71136000-71141400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:71136000-71148200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:71136200-71141400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:71136200-71141600	Strong transcription	Placenta	Placenta
48	chr6:71136200-71142400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:71136200-71142800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:71136200-71147000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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