Variant report

Variant	rs2884001
Chromosome Location	chr6:118978975-118978976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118977517..118980348-chr6:118986192..118988530,2	K562	blood:
2	chr6:118973033..118976583-chr6:118976702..118979971,3	MCF-7	breast:
3	chr6:118972754..118975084-chr6:118976794..118980244,4	K562	blood:
4	chr6:118977602..118979632-chr6:119069204..119070765,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1150121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1288839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1688637	1.00[EUR][1000 genomes]
rs1777652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2000111	1.00[EUR][1000 genomes]
rs2496350	1.00[EUR][1000 genomes]
rs2496351	1.00[EUR][1000 genomes]
rs2496354	1.00[EUR][1000 genomes]
rs2516263	1.00[EUR][1000 genomes]
rs2638540	1.00[EUR][1000 genomes]
rs284917	1.00[EUR][1000 genomes]
rs387819	1.00[EUR][1000 genomes]
rs407747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs415198	1.00[EUR][1000 genomes]
rs448134	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59547233	1.00[EUR][1000 genomes]
rs6914241	1.00[EUR][1000 genomes]
rs73519448	1.00[EUR][1000 genomes]
rs7751545	1.00[EUR][1000 genomes]
rs9372513	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118973400-118980800	Weak transcription	HSMM	muscle
2	chr6:118973400-118988800	Weak transcription	NH-A	brain
3	chr6:118973600-118979000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr6:118973600-118980600	Weak transcription	NHLF	lung
5	chr6:118973600-118980800	Weak transcription	Pancreas	Pancrea
6	chr6:118973600-118981200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:118973600-118981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:118973600-118983000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:118973600-118983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:118973600-118989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:118974800-118979000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:118975600-118979000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:118975800-118979000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:118975800-118979400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:118976200-118979000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:118976200-118979400	Enhancers	Primary T cells from cord blood	blood
17	chr6:118976400-118979000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:118977200-118979000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:118978000-118979000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr6:118978000-118979000	Flanking Active TSS	Dnd41	blood
21	chr6:118978000-118980600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:118978200-118979000	Enhancers	Fetal Thymus	thymus
23	chr6:118978200-118985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:118978200-118989800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:118978400-118979000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:118978400-118979000	Enhancers	Thymus	Thymus
27	chr6:118978400-118979200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:118978600-118979000	Enhancers	Psoas Muscle	Psoas
29	chr6:118978600-118980600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:118978600-118981800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:118978600-118982400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:118978600-118983000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:118978800-118980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:118978800-118980600	Enhancers	Primary T helper cells PMA-I stimulated	--

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