Variant report

Variant	rs234934
Chromosome Location	chr6:2224987-2224988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
2	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
3	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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1196386	1.00[AMR][1000 genomes]
rs1196391	1.00[AMR][1000 genomes]
rs1196392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1196395	1.00[AMR][1000 genomes]
rs1196397	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1196398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1486275	1.00[AMR][1000 genomes]
rs234921	1.00[AMR][1000 genomes]
rs2450308	1.00[AMR][1000 genomes]
rs335962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs335964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs634508	1.00[AMR][1000 genomes]
rs6925655	1.00[AMR][1000 genomes]
rs6931860	1.00[AMR][1000 genomes]
rs965754	1.00[AMR][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

No data

Chromatin state (count:52 , 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	chr6:2222600-2225600	Weak transcription	NH-A	brain
4	chr6:2222600-2225800	Weak transcription	Psoas Muscle	Psoas
5	chr6:2222600-2226000	Enhancers	Pancreas	Pancrea
6	chr6:2222600-2226000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr6:2222600-2231400	Weak transcription	Aorta	Aorta
8	chr6:2222600-2244400	Weak transcription	Fetal Stomach	stomach
9	chr6:2222600-2244600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:2222800-2225600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:2222800-2230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:2222800-2243800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:2223000-2225000	Weak transcription	HUVEC	blood vessel
14	chr6:2223000-2225200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2223000-2225400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:2223000-2225600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:2223000-2225600	Weak transcription	A549	lung
18	chr6:2223000-2225800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:2223000-2226200	Weak transcription	NHDF-Ad	bronchial
20	chr6:2223000-2226800	Weak transcription	Fetal Lung	lung
21	chr6:2223000-2228000	Weak transcription	Right Atrium	heart
22	chr6:2223000-2229000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:2223000-2230000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:2223000-2230400	Enhancers	Stomach Mucosa	stomach
25	chr6:2223000-2231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:2223200-2225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:2223200-2225200	Weak transcription	Osteobl	bone
28	chr6:2223200-2225600	Weak transcription	Liver	Liver
29	chr6:2223200-2225600	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:2223200-2225800	Weak transcription	HMEC	breast
31	chr6:2223200-2229200	Weak transcription	GM12878-XiMat	blood
32	chr6:2223200-2229800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:2223200-2229800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:2223200-2229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:2223200-2230200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:2223200-2231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:2223200-2231400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:2223200-2231400	Weak transcription	Spleen	Spleen
39	chr6:2223200-2231600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:2223200-2233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:2223400-2225600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:2223800-2225200	Weak transcription	Colonic Mucosa	Colon
43	chr6:2223800-2231600	Weak transcription	Lung	lung
44	chr6:2224000-2225200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:2224000-2225600	Weak transcription	Hela-S3	cervix
46	chr6:2224200-2225000	Weak transcription	Small Intestine	intestine
47	chr6:2224400-2227800	Enhancers	Fetal Intestine Small	intestine
48	chr6:2224600-2225000	Weak transcription	Fetal Intestine Large	intestine
49	chr6:2224600-2225000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:2224600-2225200	Enhancers	HepG2	liver

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