Variant report

Variant	rs9470816
Chromosome Location	chr6:38153951-38153952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38150165..38152745-chr6:38153295..38155930,2	MCF-7	breast:
2	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:
3	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
4	chr6:38143298..38146088-chr6:38153690..38155707,2	K562	blood:
5	chr6:38138513..38140843-chr6:38152378..38154915,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10807190	0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10807191	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10807192	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs10947714	0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10947716	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11754110	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11756830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196879	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12197001	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12198616	0.92[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs12206712	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13205068	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13212638	0.86[JPT][hapmap]
rs17678747	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs17678833	0.92[ASN][1000 genomes]
rs2092426	0.80[EUR][1000 genomes]
rs2143403	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235710	0.99[ASN][1000 genomes]
rs2235711	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3800358	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3823431	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4314486	0.99[ASN][1000 genomes]
rs4510661	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6458044	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6938410	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs735117	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737171	0.89[ASN][1000 genomes]
rs742537	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742538	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742539	0.82[EUR][1000 genomes]
rs761153	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7742915	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7756835	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909998	0.88[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs926565	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9380721	0.99[ASN][1000 genomes]
rs9462400	0.97[ASN][1000 genomes]
rs9462404	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9462405	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9462406	0.87[ASN][1000 genomes]
rs9462409	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9470806	0.81[ASN][1000 genomes]
rs9470807	0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9470811	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9470813	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470818	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470819	0.97[ASN][1000 genomes]
rs9470820	0.97[ASN][1000 genomes]
rs9470822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470824	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9470825	0.81[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
3	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
6	chr6:38133600-38160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:38133600-38164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:38136000-38159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:38136800-38156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
12	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:38142200-38155400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:38142800-38162000	Weak transcription	Adipose Nuclei	Adipose
15	chr6:38143200-38159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:38143200-38161200	Weak transcription	Placenta	Placenta
17	chr6:38143600-38162400	Weak transcription	Right Ventricle	heart
18	chr6:38143600-38177200	Weak transcription	Ovary	ovary
19	chr6:38144000-38159200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:38144000-38161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:38144000-38161400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:38144000-38161600	Weak transcription	Thymus	Thymus
23	chr6:38144200-38155600	Weak transcription	Spleen	Spleen
24	chr6:38145200-38155600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:38145200-38156400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:38145200-38163400	Weak transcription	Colonic Mucosa	Colon
27	chr6:38145600-38155000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:38145600-38155200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:38145800-38154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:38145800-38159600	Weak transcription	Fetal Intestine Large	intestine
31	chr6:38145800-38159800	Weak transcription	Liver	Liver
32	chr6:38146000-38162400	Weak transcription	Pancreas	Pancrea
33	chr6:38146200-38155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:38146400-38155000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:38146400-38155000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:38146400-38161600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:38146400-38162400	Weak transcription	Gastric	stomach
38	chr6:38146600-38159400	Weak transcription	Esophagus	oesophagus
39	chr6:38146600-38160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:38146600-38162400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:38147400-38180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:38148000-38159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:38148200-38162200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:38148400-38155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:38150600-38155200	Weak transcription	Primary T cells from cord blood	blood
46	chr6:38151600-38154000	Enhancers	Brain Hippocampus Middle	brain
47	chr6:38151800-38154000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:38151800-38154400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:38151800-38155800	Enhancers	Brain Angular Gyrus	brain
50	chr6:38151800-38155800	Enhancers	Brain Anterior Caudate	brain

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