Variant report

Variant	rs4566940
Chromosome Location	chr7:21962694-21962695
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	chr7:21957056..21958592-chr7:21961701..21964612,2	K562	blood:

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

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

rs_ID	r²[population]
rs12700327	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.80[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4398800	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59258063	0.81[AFR][1000 genomes]
rs60181879	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445926	0.83[AFR][1000 genomes]
rs6978094	0.83[ASW][hapmap]
rs7807924	0.81[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21933000-21963200	Weak transcription	A549	lung
2	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:21946200-21963400	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:21951600-21982600	Weak transcription	HSMM	muscle
6	chr7:21952400-21963200	Weak transcription	Psoas Muscle	Psoas
7	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
8	chr7:21952800-21963200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:21954400-21963200	Weak transcription	Hela-S3	cervix
10	chr7:21954800-21962800	Weak transcription	Pancreas	Pancrea
11	chr7:21954800-21966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21954800-21970400	Weak transcription	Liver	Liver
13	chr7:21954800-21971800	Weak transcription	Gastric	stomach
14	chr7:21955000-21967400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:21955000-21969800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:21955200-21967800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:21956000-21966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:21956000-21976400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:21956200-21962800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:21956200-21963000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:21956200-21963200	Weak transcription	Ovary	ovary
27	chr7:21956200-21967200	Weak transcription	Thymus	Thymus
28	chr7:21956200-21967400	Weak transcription	Fetal Stomach	stomach
29	chr7:21956200-21976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:21956400-21965400	Enhancers	Fetal Heart	heart
31	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:21956600-21964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:21956600-21966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:21956600-21967400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:21956600-21970000	Weak transcription	Fetal Thymus	thymus
36	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:21956800-21966600	Weak transcription	NHEK	skin
38	chr7:21958200-21965200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr7:21959600-21965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:21959800-21964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:21959800-21967000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:21959800-21973800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:21960000-21965000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:21960000-21965000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:21960200-21965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:21960200-21965000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:21960200-21965200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:21960800-21962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:21961000-21963000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:21961200-21963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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