Variant report

Variant	rs7950331
Chromosome Location	chr11:8023737-8023738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8007800..8010303-chr11:8022829..8024867,3	MCF-7	breast:
2	chr11:8015926..8019399-chr11:8021894..8024855,4	K562	blood:
3	chr11:8017899..8020620-chr11:8022528..8024447,3	K562	blood:

Variant related genes	Relation type
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10839958	1.00[JPT][hapmap]
rs10839960	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10839962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11041699	1.00[CHB][hapmap]
rs11041702	0.97[ASN][1000 genomes]
rs1105984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1132660	0.98[ASN][1000 genomes]
rs12275353	1.00[JPT][hapmap]
rs12278319	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12294650	1.00[ASN][1000 genomes]
rs3892448	0.95[ASN][1000 genomes]
rs3903047	0.95[ASN][1000 genomes]
rs4076921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4559682	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4758038	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6578918	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6578919	0.89[ASN][1000 genomes]
rs7125891	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7126561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7935597	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7941107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7941782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs922062	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7950331	EIF3F	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
2	chr11:8016600-8025600	Weak transcription	Fetal Heart	heart
3	chr11:8017800-8024800	Weak transcription	Esophagus	oesophagus
4	chr11:8018000-8031800	Weak transcription	Aorta	Aorta
5	chr11:8018400-8032000	Weak transcription	Right Ventricle	heart
6	chr11:8019400-8024600	Weak transcription	Fetal Brain Male	brain
7	chr11:8020000-8024200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:8020000-8024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:8020000-8024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:8020000-8028200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:8020000-8033000	Weak transcription	NHDF-Ad	bronchial
12	chr11:8020200-8023800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:8020200-8024200	Weak transcription	NHEK	skin
14	chr11:8020200-8024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:8020200-8025400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:8020200-8025400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:8020200-8026600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:8020400-8023800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:8020400-8023800	Weak transcription	NH-A	brain
20	chr11:8020600-8025200	Weak transcription	HSMMtube	muscle
21	chr11:8020800-8024400	Weak transcription	Fetal Intestine Large	intestine
22	chr11:8020800-8024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:8020800-8026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:8021200-8023800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:8021400-8024000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:8021400-8024600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:8021400-8024800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:8021800-8023800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:8021800-8024000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:8021800-8024400	Weak transcription	Fetal Brain Female	brain
31	chr11:8021800-8024400	Weak transcription	Fetal Thymus	thymus
32	chr11:8021800-8024600	Weak transcription	Fetal Stomach	stomach
33	chr11:8021800-8024800	Weak transcription	Fetal Intestine Small	intestine
34	chr11:8022000-8023800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:8022000-8023800	Weak transcription	Lung	lung
36	chr11:8022000-8024000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:8022000-8024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:8022000-8024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:8022000-8024000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:8022000-8024000	Weak transcription	Spleen	Spleen
41	chr11:8022000-8024200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:8022000-8024200	Weak transcription	Thymus	Thymus
43	chr11:8022000-8024400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:8022000-8024600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:8022000-8024800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8022000-8024800	Weak transcription	Adipose Nuclei	Adipose
47	chr11:8022000-8025000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:8022000-8025000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:8022000-8025200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:8022000-8025200	Weak transcription	Brain Anterior Caudate	brain

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