Variant report

Variant	rs3778568
Chromosome Location	chr6:2225680-2225681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
2	chr6:2223759..2225696-chr6:2243552..2246152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250903	Chromatin interaction
ENSG00000112699	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11242758	0.81[ASN][1000 genomes]
rs11961324	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11963138	0.97[ASN][1000 genomes]
rs11963529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191002	0.81[ASN][1000 genomes]
rs12661136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196306	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13217030	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2295008	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450299	0.92[ASN][1000 genomes]
rs2450304	0.97[ASN][1000 genomes]
rs2450307	0.92[ASN][1000 genomes]
rs2450310	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2479001	0.92[ASN][1000 genomes]
rs2479002	0.92[ASN][1000 genomes]
rs2479004	0.92[ASN][1000 genomes]
rs2479008	0.84[ASN][1000 genomes]
rs2479011	0.81[ASN][1000 genomes]
rs2479014	0.81[ASN][1000 genomes]
rs2505657	0.86[ASN][1000 genomes]
rs2505658	0.86[ASN][1000 genomes]
rs2505659	0.92[ASN][1000 genomes]
rs2505660	0.92[ASN][1000 genomes]
rs2505661	0.92[ASN][1000 genomes]
rs2505662	0.90[ASN][1000 genomes]
rs2505663	0.92[ASN][1000 genomes]
rs2505666	0.92[ASN][1000 genomes]
rs2505667	0.94[ASN][1000 genomes]
rs2505671	0.81[ASN][1000 genomes]
rs2505673	0.81[ASN][1000 genomes]
rs2505677	0.86[ASN][1000 genomes]
rs2505678	0.86[ASN][1000 genomes]
rs36016883	0.80[ASN][1000 genomes]
rs3800184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800185	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800187	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55992523	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56196406	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596879	0.81[ASN][1000 genomes]
rs72830182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72830184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754950	0.97[ASN][1000 genomes]
rs9328087	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9378327	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9378686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9378692	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9378693	0.94[ASN][1000 genomes]
rs9391946	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9392373	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9392374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392375	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9392377	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9405550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
5	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
10	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3778568	WRNIP1	cis	parietal	SCAN
rs3778568	LYRM4	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:2222600-2225800	Weak transcription	Psoas Muscle	Psoas
4	chr6:2222600-2226000	Enhancers	Pancreas	Pancrea
5	chr6:2222600-2226000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr6:2222600-2231400	Weak transcription	Aorta	Aorta
7	chr6:2222600-2244400	Weak transcription	Fetal Stomach	stomach
8	chr6:2222600-2244600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:2222800-2230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:2222800-2243800	Weak transcription	Primary T cells from cord blood	blood
11	chr6:2223000-2225800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:2223000-2226200	Weak transcription	NHDF-Ad	bronchial
13	chr6:2223000-2226800	Weak transcription	Fetal Lung	lung
14	chr6:2223000-2228000	Weak transcription	Right Atrium	heart
15	chr6:2223000-2229000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:2223000-2230000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:2223000-2230400	Enhancers	Stomach Mucosa	stomach
18	chr6:2223000-2231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:2223200-2225800	Weak transcription	HMEC	breast
20	chr6:2223200-2229200	Weak transcription	GM12878-XiMat	blood
21	chr6:2223200-2229800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:2223200-2229800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:2223200-2229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:2223200-2230200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:2223200-2231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:2223200-2231400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:2223200-2231400	Weak transcription	Spleen	Spleen
28	chr6:2223200-2231600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:2223200-2233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:2223800-2231600	Weak transcription	Lung	lung
31	chr6:2224400-2227800	Enhancers	Fetal Intestine Small	intestine
32	chr6:2224800-2225800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:2225000-2226400	Enhancers	Small Intestine	intestine
34	chr6:2225000-2226600	Enhancers	HUVEC	blood vessel
35	chr6:2225000-2226800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:2225000-2227200	Enhancers	Fetal Intestine Large	intestine
37	chr6:2225200-2225800	Enhancers	Colonic Mucosa	Colon
38	chr6:2225200-2225800	Enhancers	Osteobl	bone
39	chr6:2225200-2226200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:2225200-2227000	Flanking Active TSS	HepG2	liver
41	chr6:2225200-2227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:2225400-2226000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:2225400-2228000	Weak transcription	Gastric	stomach
44	chr6:2225600-2225800	Enhancers	Brain Germinal Matrix	brain
45	chr6:2225600-2225800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr6:2225600-2226000	Enhancers	A549	lung
47	chr6:2225600-2226200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:2225600-2226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:2225600-2226200	Enhancers	NH-A	brain
50	chr6:2225600-2226400	Active TSS	Rectal Mucosa Donor 29	rectum

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