Variant report

Variant	rs509358
Chromosome Location	chr11:100656761-100656762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100651768..100654603-chr11:100655934..100659680,3	K562	blood:
2	chr11:100651768..100655242-chr11:100655934..100659680,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11823529	0.81[ASN][1000 genomes]
rs17651772	0.81[ASN][1000 genomes]
rs3858412	0.81[ASN][1000 genomes]
rs536090	0.82[ASN][1000 genomes]
rs582409	0.82[ASN][1000 genomes]
rs595030	0.82[ASN][1000 genomes]
rs600906	0.82[ASN][1000 genomes]
rs607890	0.82[ASN][1000 genomes]
rs612090	0.82[ASN][1000 genomes]
rs614615	0.81[ASN][1000 genomes]
rs626558	0.82[ASN][1000 genomes]
rs660736	0.82[ASN][1000 genomes]
rs685611	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100643200-100658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:100643200-100660000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:100649800-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:100652000-100659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:100653200-100660000	Weak transcription	NHEK	skin
8	chr11:100653400-100660200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:100654200-100656800	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:100654200-100657000	Enhancers	Fetal Intestine Small	intestine
11	chr11:100654200-100657000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:100654200-100658400	Enhancers	Stomach Mucosa	stomach
13	chr11:100654400-100657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:100654400-100658800	Enhancers	Fetal Heart	heart
15	chr11:100654400-100671200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:100655200-100656800	Enhancers	Small Intestine	intestine
17	chr11:100655400-100657600	Enhancers	Liver	Liver
18	chr11:100655600-100656800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:100655600-100656800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:100655600-100656800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:100655600-100656800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:100655600-100656800	Enhancers	A549	lung
23	chr11:100655600-100657000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:100655800-100656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:100655800-100657000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:100655800-100657200	Enhancers	HepG2	liver
27	chr11:100656000-100656800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:100656000-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:100656400-100658400	Weak transcription	Psoas Muscle	Psoas
30	chr11:100656400-100660000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:100656400-100660000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:100656400-100660000	Weak transcription	Left Ventricle	heart
33	chr11:100656400-100660200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:100656400-100660200	Weak transcription	Gastric	stomach
35	chr11:100656400-100660200	Weak transcription	HSMM	muscle
36	chr11:100656400-100661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:100656600-100658200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:100656600-100659600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:100656600-100660000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:100656600-100660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:100656600-100660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:100656600-100660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:100656600-100660000	Weak transcription	Right Atrium	heart
44	chr11:100656600-100660000	Weak transcription	K562	blood
45	chr11:100656600-100661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:100656600-100662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:100656600-100662800	Weak transcription	Right Ventricle	heart
48	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung

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