Variant report

Variant	rs11486988
Chromosome Location	chr7:111867576-111867577
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	chr7:111866003..111869126-chr7:111870807..111874024,3	K562	blood:
2	chr7:111863191..111864981-chr7:111865587..111867923,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60669231	0.94[AFR][1000 genomes]
rs73422544	0.83[AFR][1000 genomes]
rs73424403	0.94[AFR][1000 genomes]
rs73424419	0.94[AFR][1000 genomes]
rs73424435	0.82[AFR][1000 genomes]
rs73426433	0.82[AFR][1000 genomes]
rs73440668	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
7	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:111861800-111870200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:111863600-111874200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:111863800-111869400	Weak transcription	Psoas Muscle	Psoas
13	chr7:111863800-111879000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
15	chr7:111864000-111872600	Weak transcription	Right Ventricle	heart
16	chr7:111864000-111873200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:111864600-111869400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:111865000-111868400	Weak transcription	HepG2	liver
19	chr7:111865400-111870200	Weak transcription	Ovary	ovary
20	chr7:111865400-111873200	Weak transcription	Pancreas	Pancrea
21	chr7:111866200-111867600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:111866200-111867600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:111866400-111867800	Enhancers	NHEK	skin
24	chr7:111866600-111867600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:111866600-111867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:111866600-111867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:111866600-111867600	Enhancers	HMEC	breast
28	chr7:111866800-111867600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:111866800-111869800	Enhancers	Liver	Liver
30	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
31	chr7:111867200-111872600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:111867400-111873800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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