Variant report

Variant	rs2697809
Chromosome Location	chr11:47994811-47994812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47993972..47999221-chr11:48000961..48004940,8	MCF-7	breast:
2	chr11:47994688..47998306-chr11:48000477..48003009,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11039489	1.00[AMR][1000 genomes]
rs11039492	1.00[AMR][1000 genomes]
rs11039506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	0.91[AFR][1000 genomes]
rs12288995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290640	0.91[AFR][1000 genomes]
rs12294321	1.00[AMR][1000 genomes]
rs12294477	1.00[AMR][1000 genomes]
rs1681606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950886	0.95[AFR][1000 genomes]
rs2950889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4387319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47977000-47995400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:47988600-47995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:47989800-47995200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:47990000-47995000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:47990200-47995000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:47990200-47995000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:47990200-47995000	Weak transcription	NHDF-Ad	bronchial
8	chr11:47990200-47995200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:47990400-47995200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:47991200-47995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:47991800-47995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:47993400-48001400	Weak transcription	Right Atrium	heart
13	chr11:47993600-47995000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47993600-47995200	Weak transcription	A549	lung
15	chr11:47993800-47995000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:47994400-47995400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:47994400-47997400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:47994600-47996800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:47994600-47996800	Enhancers	HSMM	muscle
20	chr11:47994800-47995400	Enhancers	NH-A	brain
21	chr11:47994800-47995600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:47994800-47996200	Enhancers	Osteobl	bone
23	chr11:47994800-47996400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:47994800-47996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:47994800-47996600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:47994800-47996600	Enhancers	NHLF	lung
27	chr11:47994800-47996800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:47994800-47997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:47994800-47997000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:47994800-47997200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:47994800-47997200	Enhancers	Primary B cells from cord blood	blood
32	chr11:47994800-47997200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:47994800-47997400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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