Variant report

Variant	rs9470813
Chromosome Location	chr6:38151855-38151856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
2	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:
3	chr6:38150165..38152745-chr6:38153295..38155930,2	MCF-7	breast:
4	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10807190	0.80[JPT][hapmap];0.92[ASN][1000 genomes]
rs10807191	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10807192	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs10947714	0.83[CHD][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs10947716	0.81[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs11754110	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11756830	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196879	0.82[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs12197001	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12198616	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs12206712	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs13205068	0.84[ASW][hapmap];0.89[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13212638	0.82[GIH][hapmap]
rs17678747	0.91[CHB][hapmap];0.87[CHD][hapmap];0.86[ASN][1000 genomes]
rs17678833	0.86[ASN][1000 genomes]
rs2092426	0.80[EUR][1000 genomes]
rs2143403	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235710	0.93[ASN][1000 genomes]
rs2235711	0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs3800358	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs3823431	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4314486	0.93[ASN][1000 genomes]
rs4510661	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6458041	0.81[CHB][hapmap]
rs6458044	0.82[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs6938410	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs735117	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs737171	0.84[ASN][1000 genomes]
rs742537	0.84[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs742538	0.84[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs742539	0.82[EUR][1000 genomes]
rs7742915	0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs7756835	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs909998	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs926565	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs9380721	0.93[ASN][1000 genomes]
rs9462400	0.92[ASN][1000 genomes]
rs9462404	0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs9462405	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs9462406	0.90[ASN][1000 genomes]
rs9462409	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs9470807	0.82[GIH][hapmap]
rs9470811	0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs9470816	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];0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470819	0.92[ASN][1000 genomes]
rs9470820	0.92[ASN][1000 genomes]
rs9470822	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470823	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470824	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470825	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][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	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	nsv517973	chr6:38131442-38152460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	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
9	nsv520567	chr6:38144269-38152460	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	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
11	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9470813	ZFAND3	cis	cerebellum	SCAN
rs9470813	STK38	cis	cerebellum	SCAN
rs9470813	GLO1	cis	parietal	SCAN
rs9470813	KCTD20	cis	parietal	SCAN
rs9470813	C6orf126	cis	parietal	SCAN

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	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
5	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
10	chr6:38133600-38160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:38133600-38164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:38136000-38159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:38136800-38156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:38141200-38152400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
17	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:38142200-38155400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:38142400-38153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:38142800-38162000	Weak transcription	Adipose Nuclei	Adipose
21	chr6:38143200-38159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:38143200-38161200	Weak transcription	Placenta	Placenta
23	chr6:38143600-38162400	Weak transcription	Right Ventricle	heart
24	chr6:38143600-38177200	Weak transcription	Ovary	ovary
25	chr6:38144000-38159200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:38144000-38161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:38144000-38161400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:38144000-38161600	Weak transcription	Thymus	Thymus
29	chr6:38144200-38155600	Weak transcription	Spleen	Spleen
30	chr6:38145200-38155600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:38145200-38156400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:38145200-38163400	Weak transcription	Colonic Mucosa	Colon
33	chr6:38145600-38155000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:38145600-38155200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:38145800-38152000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:38145800-38154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:38145800-38159600	Weak transcription	Fetal Intestine Large	intestine
38	chr6:38145800-38159800	Weak transcription	Liver	Liver
39	chr6:38146000-38162400	Weak transcription	Pancreas	Pancrea
40	chr6:38146200-38155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:38146400-38155000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:38146400-38155000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:38146400-38161600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:38146400-38162400	Weak transcription	Gastric	stomach
45	chr6:38146600-38159400	Weak transcription	Esophagus	oesophagus
46	chr6:38146600-38160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:38146600-38162400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:38147400-38180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:38147600-38152000	Weak transcription	Brain Substantia Nigra	brain
50	chr6:38148000-38159600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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