Variant report

Variant	rs6457797
Chromosome Location	chr6:34897174-34897175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34891713..34895604-chr6:34895784..34899746,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1018622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1051115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10947536	0.88[LWK][hapmap];0.86[YRI][hapmap]
rs11552398	1.00[JPT][hapmap]
rs11961041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11963234	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11964930	1.00[JPT][hapmap]
rs11966100	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11967912	0.87[EUR][1000 genomes]
rs11968954	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs11968972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12111129	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212217	0.85[YRI][hapmap]
rs13193526	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13195029	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13195361	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13195490	0.85[EUR][1000 genomes]
rs13196785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13199238	1.00[JPT][hapmap]
rs13200792	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13203612	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13205210	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13206245	0.87[EUR][1000 genomes]
rs13207848	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs13208149	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13210470	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13211490	1.00[JPT][hapmap]
rs13213239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13213288	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13213604	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13214596	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215208	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13216424	1.00[JPT][hapmap]
rs13217848	1.00[JPT][hapmap]
rs13219307	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13219624	0.85[LWK][hapmap];0.82[YRI][hapmap]
rs16871749	1.00[JPT][hapmap]
rs16871809	1.00[JPT][hapmap]
rs16871814	1.00[JPT][hapmap]
rs16895659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16896559	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1737727	0.83[LWK][hapmap];0.82[YRI][hapmap]
rs1747517	1.00[JPT][hapmap]
rs1880090	0.85[CHB][hapmap]
rs2140418	0.86[YRI][hapmap]
rs2177380	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2177381	0.88[LWK][hapmap];0.86[YRI][hapmap]
rs2234044	1.00[JPT][hapmap]
rs2234045	1.00[JPT][hapmap]
rs2273006	0.86[YRI][hapmap]
rs2293242	0.88[LWK][hapmap];0.86[YRI][hapmap]
rs2296361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2395603	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2395605	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2473613	0.82[YRI][hapmap]
rs2504162	0.85[YRI][hapmap]
rs2762336	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28360525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2985	0.86[YRI][hapmap]
rs34261333	0.83[EUR][1000 genomes]
rs34355573	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34377413	0.84[EUR][1000 genomes]
rs34463942	0.84[EUR][1000 genomes]
rs34480956	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34681295	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34840245	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35081279	0.85[EUR][1000 genomes]
rs35143960	0.87[EUR][1000 genomes]
rs35186650	0.84[EUR][1000 genomes]
rs35195182	0.84[EUR][1000 genomes]
rs35203657	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35285054	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35369977	0.84[EUR][1000 genomes]
rs35744142	0.84[EUR][1000 genomes]
rs35940001	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36026951	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3734261	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3734266	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800451	0.82[YRI][hapmap]
rs4438945	0.83[EUR][1000 genomes]
rs4646933	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457792	1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap]
rs6457796	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs6457798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66672772	0.84[EUR][1000 genomes]
rs66926909	0.83[EUR][1000 genomes]
rs67622212	0.85[EUR][1000 genomes]
rs67895864	0.84[EUR][1000 genomes]
rs6904996	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6906666	1.00[JPT][hapmap]
rs6910824	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6914031	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6914351	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6915649	1.00[JPT][hapmap]
rs6918872	0.82[YRI][hapmap]
rs6925175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6926373	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6932857	0.82[YRI][hapmap]
rs6934741	0.85[EUR][1000 genomes]
rs6941453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71567467	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs728238	1.00[JPT][hapmap]
rs72892286	0.87[EUR][1000 genomes]
rs72910167	0.82[EUR][1000 genomes]
rs7739385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7743724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7743949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7755354	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7758743	0.85[EUR][1000 genomes]
rs7761391	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7764126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7775947	0.85[EUR][1000 genomes]
rs7776439	0.85[EUR][1000 genomes]
rs820062	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs820065	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs820066	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs820069	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs820095	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs820099	1.00[JPT][hapmap]
rs820101	1.00[JPT][hapmap]
rs820103	0.81[JPT][hapmap]
rs847848	0.88[LWK][hapmap];0.89[YRI][hapmap]
rs912717	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296133	0.85[ASN][1000 genomes]
rs9296139	0.85[LWK][hapmap];0.82[YRI][hapmap]
rs9357188	0.82[YRI][hapmap]
rs9462027	1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9469904	0.88[ASN][1000 genomes]
rs9968782	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6457797	TAF11	cis	cerebellum	SCAN
rs6457797	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs6457797	C6orf89	cis	parietal	SCAN
rs6457797	CPNE5	cis	cerebellum	SCAN
rs6457797	NUDT3	cis	parietal	SCAN
rs6457797	UHRF1BP1	cis	parietal	SCAN
rs6457797	C6orf107	cis	uninvolved skin	skin_eQTL
rs6457797	ETV7	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
3	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
8	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
9	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
11	chr6:34887000-34902800	Weak transcription	Lung	lung
12	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
13	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:34888000-34902200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
16	chr6:34893200-34897600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:34893600-34898200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:34894400-34902200	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:34894600-34902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:34894600-34907200	Weak transcription	HepG2	liver
21	chr6:34894800-34897400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:34894800-34899800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
24	chr6:34895200-34897200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:34895200-34902200	Weak transcription	NHEK	skin
26	chr6:34895400-34897400	Enhancers	Gastric	stomach
27	chr6:34895400-34902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:34895800-34898200	Enhancers	Fetal Heart	heart
29	chr6:34895800-34902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:34896000-34898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:34896000-34902000	Weak transcription	Right Atrium	heart
33	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:34896200-34898000	Weak transcription	Ovary	ovary
35	chr6:34896200-34900200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:34896200-34902800	Weak transcription	Right Ventricle	heart
37	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
38	chr6:34896600-34897800	Enhancers	Stomach Mucosa	stomach
39	chr6:34896600-34900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:34896600-34902200	Weak transcription	Brain Anterior Caudate	brain
41	chr6:34896600-34902200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:34896800-34901200	Weak transcription	Left Ventricle	heart
45	chr6:34896800-34902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:34897000-34898200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:34897000-34902400	Weak transcription	Brain Hippocampus Middle	brain

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