Variant report

Variant	rs4930285
Chromosome Location	chr11:64997091-64997092
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	chr11:64950123..64953018-chr11:64995435..64997716,2	MCF-7	breast:
2	chr11:64996294..64998325-chr11:65001503..65003703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014216	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10791815	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10895992	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895993	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227153	0.81[EUR][1000 genomes]
rs11227154	0.81[EUR][1000 genomes]
rs12789598	0.81[EUR][1000 genomes]
rs2271446	0.81[EUR][1000 genomes]
rs4930703	0.88[EUR][1000 genomes]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
2	chr11:64993400-65000000	Weak transcription	A549	lung
3	chr11:64993600-64997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:64993600-64997200	Weak transcription	Psoas Muscle	Psoas
5	chr11:64993600-64997600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64993600-64999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:64993600-64999400	Weak transcription	NHLF	lung
8	chr11:64993600-64999800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:64993600-65001400	Weak transcription	Right Ventricle	heart
10	chr11:64993600-65011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:64993800-64997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:64993800-64997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:64993800-64997400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:64993800-64998400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:64993800-64998400	Weak transcription	Brain Substantia Nigra	brain
16	chr11:64993800-64998600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:64993800-64999600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:64993800-65003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:64993800-65004000	Weak transcription	Esophagus	oesophagus
20	chr11:64993800-65010800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:64993800-65010800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:64994000-64997400	Weak transcription	NHEK	skin
23	chr11:64994000-64998200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:64994000-64998400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:64994000-64999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:64994000-64999600	Weak transcription	Liver	Liver
27	chr11:64994000-65000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:64994000-65003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:64994200-64997800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:64994200-64998600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:64994200-64999400	Weak transcription	HMEC	breast
32	chr11:64994200-65003800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:64994200-65007200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:64996400-64999800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:64996600-64997200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:64996800-64997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:64996800-64997800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr11:64996800-64998000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:64997000-64997800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:64997000-65000200	Weak transcription	Lung	lung

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