Variant report

Variant	rs6864377
Chromosome Location	chr5:61709313-61709314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
2	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
3	chr5:61708374..61709879-chr5:61712891..61715060,2	MCF-7	breast:
4	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
5	chr5:61686362..61687960-chr5:61708194..61709938,2	MCF-7	breast:
6	chr5:61601533..61603969-chr5:61707379..61709702,2	K562	blood:

Variant related genes	Relation type
ENSG00000086189	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16890603	1.00[AMR][1000 genomes]
rs16890718	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890722	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890748	1.00[AMR][1000 genomes]
rs16890754	1.00[AMR][1000 genomes]
rs16890773	1.00[AMR][1000 genomes]
rs16890775	1.00[AMR][1000 genomes]
rs16890823	1.00[AMR][1000 genomes]
rs17349793	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053695	1.00[AMR][1000 genomes]
rs58504293	1.00[AMR][1000 genomes]
rs60001470	1.00[AMR][1000 genomes]
rs60115750	1.00[AMR][1000 genomes]
rs61118775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868330	1.00[AMR][1000 genomes]
rs6873199	1.00[AMR][1000 genomes]
rs6875068	1.00[AMR][1000 genomes]
rs6877630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883414	1.00[AMR][1000 genomes]
rs6886500	1.00[AMR][1000 genomes]
rs6886876	1.00[AMR][1000 genomes]
rs6887244	1.00[AMR][1000 genomes]
rs6888917	1.00[AMR][1000 genomes]
rs6893193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102077	1.00[AMR][1000 genomes]
rs73104048	1.00[AMR][1000 genomes]
rs73105912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105939	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105990	1.00[AMR][1000 genomes]
rs73105993	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108048	1.00[AMR][1000 genomes]
rs73108058	1.00[AMR][1000 genomes]
rs73108070	1.00[AMR][1000 genomes]
rs73108074	1.00[AMR][1000 genomes]
rs73108089	1.00[AMR][1000 genomes]
rs73108092	1.00[AMR][1000 genomes]
rs73110006	1.00[AMR][1000 genomes]
rs73110010	1.00[AMR][1000 genomes]
rs73117401	1.00[AMR][1000 genomes]
rs73119503	1.00[AMR][1000 genomes]
rs73119521	1.00[AMR][1000 genomes]
rs73119543	1.00[AMR][1000 genomes]
rs7711860	1.00[AMR][1000 genomes]
rs7725660	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728166	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729131	1.00[AMR][1000 genomes]
rs7735150	0.86[AFR][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	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61707800-61709400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:61707800-61709400	Active TSS	Stomach Smooth Muscle	stomach
3	chr5:61707800-61709400	Active TSS	NH-A	brain
4	chr5:61707800-61709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr5:61707800-61709600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:61707800-61709800	Active TSS	Psoas Muscle	Psoas
7	chr5:61707800-61709800	Active TSS	NHDF-Ad	bronchial
8	chr5:61707800-61710000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:61707800-61710000	Active TSS	A549	lung
10	chr5:61707800-61710200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:61708000-61709400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:61708000-61709400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:61708000-61709400	Active TSS	Aorta	Aorta
14	chr5:61708000-61709400	Active TSS	Fetal Kidney	kidney
15	chr5:61708000-61709400	Active TSS	Left Ventricle	heart
16	chr5:61708000-61709400	Active TSS	HMEC	breast
17	chr5:61708000-61709400	Active TSS	HSMM	muscle
18	chr5:61708000-61709400	Active TSS	HSMMtube	muscle
19	chr5:61708000-61709600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:61708000-61709600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:61708000-61709600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:61708000-61709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:61708000-61709600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:61708000-61709600	Active TSS	Right Atrium	heart
25	chr5:61708000-61709800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:61708000-61709800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:61708000-61709800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:61708000-61709800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:61708000-61709800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:61708000-61709800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:61708000-61709800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:61708000-61709800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:61708000-61709800	Active TSS	Right Ventricle	heart
34	chr5:61708000-61710000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr5:61708000-61710200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:61708200-61709400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:61708200-61709400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:61708200-61709400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:61708200-61709400	Active TSS	Colon Smooth Muscle	Colon
40	chr5:61708200-61709400	Active TSS	Fetal Intestine Small	intestine
41	chr5:61708200-61709400	Active TSS	Fetal Lung	lung
42	chr5:61708200-61709400	Active TSS	Fetal Muscle Leg	muscle
43	chr5:61708200-61709400	Active TSS	Lung	lung
44	chr5:61708200-61709400	Active TSS	Pancreas	Pancrea
45	chr5:61708200-61709400	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr5:61708200-61709400	Active TSS	NHEK	skin
47	chr5:61708200-61709600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:61708200-61709600	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr5:61708200-61709600	Active TSS	Fetal Muscle Trunk	muscle
50	chr5:61708200-61709800	Active TSS	Stomach Mucosa	stomach

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