Variant report

Variant	rs6698656
Chromosome Location	chr1:62189873-62189874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62172803..62176394-chr1:62188013..62191041,5	K562	blood:
2	chr1:62148615..62150124-chr1:62189264..62192017,2	MCF-7	breast:
3	chr1:62173473..62177807-chr1:62188633..62191997,6	K562	blood:
4	chr1:62189472..62191047-chr17:57915303..57918129,2	MCF-7	breast:
5	chr1:62149064..62151297-chr1:62189288..62192078,2	K562	blood:
6	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
7	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132849	Chromatin interaction
ENSG00000271200	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1151756	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151770	0.93[ASN][1000 genomes]
rs1151771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1151773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1151775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12122540	0.85[AMR][1000 genomes]
rs12124430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12130241	0.85[ASN][1000 genomes]
rs12130439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs12134102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12134205	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12134428	0.93[ASN][1000 genomes]
rs12137410	0.93[ASN][1000 genomes]
rs12141280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12141298	1.00[YRI][hapmap]
rs12143420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12144284	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1286624	0.93[ASN][1000 genomes]
rs1286625	0.93[ASN][1000 genomes]
rs1286626	0.93[ASN][1000 genomes]
rs1286628	0.85[ASN][1000 genomes]
rs1286629	0.85[ASN][1000 genomes]
rs1286630	0.85[ASN][1000 genomes]
rs1286634	0.85[ASN][1000 genomes]
rs1611797	0.93[ASN][1000 genomes]
rs1620169	0.93[ASN][1000 genomes]
rs1692131	0.81[ASN][1000 genomes]
rs1779267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2051135	0.93[ASN][1000 genomes]
rs2051136	1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2482854	1.00[YRI][hapmap]
rs2499004	1.00[YRI][hapmap]
rs2499007	1.00[YRI][hapmap]
rs2799626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4443919	0.93[ASN][1000 genomes]
rs6662941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666057	0.93[ASN][1000 genomes]
rs6697770	0.86[ASN][1000 genomes]
rs72674608	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7536565	0.93[ASN][1000 genomes]
rs7539026	0.93[ASN][1000 genomes]
rs7550631	0.93[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62174600-62190200	Weak transcription	Small Intestine	intestine
3	chr1:62174800-62190000	Weak transcription	Ovary	ovary
4	chr1:62174800-62190400	Weak transcription	Spleen	Spleen
5	chr1:62175200-62190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:62184000-62190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:62188400-62190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:62188400-62190000	Flanking Active TSS	HUVEC	blood vessel
9	chr1:62188800-62190000	Enhancers	Brain Substantia Nigra	brain
10	chr1:62189000-62190000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:62189000-62190200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:62189000-62190400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:62189000-62191400	Active TSS	NHLF	lung
14	chr1:62189200-62190000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:62189200-62191600	Active TSS	K562	blood
16	chr1:62189400-62190000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:62189400-62190000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:62189400-62190000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:62189400-62190000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:62189400-62190000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:62189400-62190000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:62189400-62190000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:62189400-62190000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:62189400-62190000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:62189400-62190000	Enhancers	Fetal Brain Male	brain
26	chr1:62189400-62190000	Flanking Active TSS	Dnd41	blood
27	chr1:62189400-62190000	Flanking Active TSS	NHEK	skin
28	chr1:62189400-62190200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:62189400-62190200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr1:62189400-62190200	Active TSS	HepG2	liver
31	chr1:62189400-62190400	Flanking Active TSS	Fetal Brain Female	brain
32	chr1:62189400-62190600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:62189400-62191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:62189400-62191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:62189400-62191600	Active TSS	Fetal Lung	lung
36	chr1:62189400-62191800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:62189400-62191800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:62189400-62191800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:62189600-62190000	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:62189600-62190000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:62189600-62190000	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:62189600-62190000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:62189600-62190000	Active TSS	Fetal Kidney	kidney
44	chr1:62189600-62190000	Enhancers	Fetal Stomach	stomach
45	chr1:62189600-62190000	Enhancers	Fetal Thymus	thymus
46	chr1:62189600-62190000	Flanking Active TSS	Hela-S3	cervix
47	chr1:62189600-62190000	Flanking Active TSS	NH-A	brain
48	chr1:62189600-62190200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:62189600-62190200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr1:62189600-62190200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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