Variant report

Variant	rs11684997
Chromosome Location	chr2:10634757-10634758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10632460..10635197-chr2:10636856..10639931,3	MCF-7	breast:
2	chr2:10587024..10588852-chr2:10632688..10636203,3	MCF-7	breast:
3	chr2:10629215..10631818-chr2:10634712..10637386,3	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11678008	1.00[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2755724	chr2:10624654-10675549	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv873652	chr2:10627860-10688969	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv873653	chr2:10627860-10688969	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv9358	chr2:10630321-10686821	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv828319	chr2:10630428-10679028	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10619400-10636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10632800-10635000	Enhancers	NHEK	skin
3	chr2:10633200-10635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10633200-10635000	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:10633200-10635000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:10633200-10635000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:10633200-10635000	Enhancers	Dnd41	blood
8	chr2:10633200-10635200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:10633200-10635600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:10633400-10634800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:10633400-10634800	Enhancers	Osteobl	bone
12	chr2:10633400-10635000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:10633400-10635000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:10633400-10635000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:10633400-10635000	Enhancers	Fetal Thymus	thymus
16	chr2:10633400-10635800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:10633400-10636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:10633600-10634800	Enhancers	Esophagus	oesophagus
19	chr2:10633600-10634800	Enhancers	GM12878-XiMat	blood
20	chr2:10633600-10635000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10633600-10635000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:10633600-10635000	Enhancers	Gastric	stomach
23	chr2:10633600-10635000	Enhancers	Spleen	Spleen
24	chr2:10633600-10635400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:10633800-10635400	Enhancers	Stomach Mucosa	stomach
26	chr2:10634000-10635000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:10634200-10634800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr2:10634200-10635000	Enhancers	HMEC	breast
29	chr2:10634400-10634800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:10634400-10634800	Enhancers	HSMM	muscle
31	chr2:10634400-10634800	Enhancers	NH-A	brain
32	chr2:10634400-10635000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:10634400-10635000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:10634400-10635600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:10634400-10637800	Weak transcription	HSMMtube	muscle
36	chr2:10634600-10634800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:10634600-10635000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr2:10634600-10635000	Enhancers	Hela-S3	cervix
39	chr2:10634600-10636200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:10634600-10636200	Enhancers	A549	lung

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