Variant report

Variant	rs820095
Chromosome Location	chr6:35021517-35021518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35020474..35024244-chr6:35026178..35030264,6	K562	blood:
2	chr6:35020203..35022159-chr6:35023011..35024992,4	K562	blood:
3	chr6:35016131..35018255-chr6:35020438..35022614,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1051115	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1093986	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11552398	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11961798	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11964930	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11969000	0.84[CEU][hapmap]
rs13196771	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13199238	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13203612	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13205210	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13206654	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13207848	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13208078	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs13211490	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13214114	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13216424	0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13217848	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13219307	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16871749	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16871809	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16871814	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16896559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1747516	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1747517	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17610836	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17611877	0.91[ASN][1000 genomes]
rs1929848	1.00[GIH][hapmap]
rs2177380	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs2177382	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2234044	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2234045	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2395608	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395610	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2494098	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2762336	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2820225	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34069418	0.98[ASN][1000 genomes]
rs34103100	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34208177	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34250961	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34715060	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34930033	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35095464	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35693439	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3734261	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3734266	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3756856	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41270050	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4628094	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4646933	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs57111149	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457797	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs66579470	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67167177	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67388064	0.84[ASN][1000 genomes]
rs67638810	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67941146	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6899618	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6906666	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913286	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913975	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6915649	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6925175	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs6926532	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6936337	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942104	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs728238	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72896231	0.81[ASN][1000 genomes]
rs72896254	0.98[ASN][1000 genomes]
rs72897804	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72901705	0.89[ASN][1000 genomes]
rs734538	1.00[GIH][hapmap]
rs763155	1.00[GIH][hapmap]
rs7739385	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7766770	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7767073	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820061	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820062	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820063	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820065	0.92[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820066	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820067	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820069	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820072	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820077	0.84[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs820083	0.92[ASN][1000 genomes]
rs820099	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820100	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820101	0.92[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820103	0.92[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843937	0.92[ASN][1000 genomes]
rs865352	0.81[ASN][1000 genomes]
rs9394282	1.00[GIH][hapmap]
rs9462053	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9462054	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469950	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs820095	BRPF3	cis	cerebellum	SCAN
rs820095	TCP11	cis	lymphoblastoid	seeQTL
rs820095	SPDEF	cis	Esophagus Mucosa	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34994600-35036000	Weak transcription	K562	blood
2	chr6:35014600-35022200	Weak transcription	NHEK	skin
3	chr6:35015200-35021800	Enhancers	Left Ventricle	heart
4	chr6:35015600-35021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:35015800-35044200	Weak transcription	HMEC	breast
6	chr6:35016200-35022400	Weak transcription	Pancreas	Pancrea
7	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
8	chr6:35016400-35023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:35016600-35021600	Genic enhancers	Fetal Stomach	stomach
10	chr6:35016800-35026400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:35016800-35026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:35016800-35027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:35016800-35028000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:35016800-35028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:35017000-35021600	Enhancers	Brain Angular Gyrus	brain
16	chr6:35017000-35026000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:35017000-35026200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:35017000-35026200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:35017200-35021600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:35017200-35021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:35017200-35022000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:35017400-35021600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:35017400-35021800	Enhancers	Brain Substantia Nigra	brain
24	chr6:35017400-35022600	Weak transcription	Gastric	stomach
25	chr6:35017400-35028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:35017400-35028600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:35017600-35021600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr6:35017600-35021800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:35017600-35028000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:35017600-35036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:35017800-35021800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:35017800-35024800	Weak transcription	Fetal Heart	heart
33	chr6:35017800-35027600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
35	chr6:35018000-35021600	Enhancers	Brain Anterior Caudate	brain
36	chr6:35018000-35021800	Weak transcription	Thymus	Thymus
37	chr6:35018200-35022800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:35018200-35025400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:35018200-35025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:35018400-35021800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:35018400-35021800	Weak transcription	Osteobl	bone
42	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
43	chr6:35018600-35022000	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:35018600-35025000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:35018600-35027800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:35018800-35021600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:35018800-35021800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:35018800-35022200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:35018800-35022600	Genic enhancers	HSMMtube	muscle

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