Variant report

Variant	rs17012218
Chromosome Location	chr4:87890200-87890201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87854312..87856792-chr4:87888842..87891299,2	K562	blood:
2	chr4:87885535..87895894-chr4:87923652..87929924,15	K562	blood:
3	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
4	chr4:87853531..87856106-chr4:87889167..87893034,3	K562	blood:
5	chr4:87887515..87891253-chr4:87896887..87898835,3	MCF-7	breast:
6	chr4:87887576..87890544-chr4:87927367..87929532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16996065	1.00[AFR][1000 genomes]
rs17012152	1.00[AFR][1000 genomes]
rs17012191	1.00[AFR][1000 genomes]
rs17012211	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv291773	chr4:87884343-87891031	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:87878800-87891600	Weak transcription	NHEK	skin
7	chr4:87881000-87891800	Weak transcription	Lung	lung
8	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:87882000-87895400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:87882200-87891400	Weak transcription	Ovary	ovary
11	chr4:87882200-87895600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:87882400-87893800	Weak transcription	Colonic Mucosa	Colon
13	chr4:87882400-87898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:87882600-87891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:87882800-87891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:87883000-87891800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:87883800-87890600	Enhancers	Fetal Thymus	thymus
20	chr4:87883800-87891800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:87883800-87891800	Weak transcription	Fetal Intestine Large	intestine
22	chr4:87883800-87894200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:87884200-87893800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:87884200-87894000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:87885000-87891400	Weak transcription	Stomach Mucosa	stomach
26	chr4:87885000-87891800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:87885000-87894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:87885000-87894200	Weak transcription	HMEC	breast
29	chr4:87885800-87890200	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:87885800-87890600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:87886000-87890400	Enhancers	Thymus	Thymus
32	chr4:87886400-87890200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:87886400-87890600	Genic enhancers	Placenta	Placenta
34	chr4:87886600-87898600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:87886800-87891800	Weak transcription	Fetal Heart	heart
36	chr4:87886800-87894200	Weak transcription	Hela-S3	cervix
37	chr4:87887000-87891400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:87887000-87891400	Weak transcription	HepG2	liver
39	chr4:87887000-87891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:87887000-87892600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:87887200-87891400	Weak transcription	Liver	Liver
42	chr4:87887400-87890600	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:87887400-87891600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:87887400-87891800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:87887400-87891800	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:87887800-87891800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:87888000-87893400	Enhancers	HUVEC	blood vessel
48	chr4:87888200-87890400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:87888200-87891600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:87888200-87895800	Weak transcription	Primary T cells from cord blood	blood

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