Variant report

Variant	rs7951923
Chromosome Location	chr11:8012077-8012078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8011563-8012233	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8011622..8013297-chr11:8056375..8059181,2	K562	blood:
2	chr11:8008425..8011151-chr11:8011381..8013712,2	MCF-7	breast:
3	chr11:8010094..8012812-chr11:8018945..8021988,4	K562	blood:

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11041703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs11041704	1.00[ASN][1000 genomes]
rs11041705	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12417944	1.00[ASN][1000 genomes]
rs12420107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12421289	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs1397596	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4548609	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4758263	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56071931	1.00[ASN][1000 genomes]
rs56391804	1.00[ASN][1000 genomes]
rs56392532	1.00[ASN][1000 genomes]
rs57424199	1.00[ASN][1000 genomes]
rs61879577	1.00[ASN][1000 genomes]
rs66473380	1.00[ASN][1000 genomes]
rs67181930	1.00[ASN][1000 genomes]
rs67238148	1.00[ASN][1000 genomes]
rs67876487	1.00[ASN][1000 genomes]
rs73412938	1.00[ASN][1000 genomes]
rs73412945	1.00[ASN][1000 genomes]
rs73412998	1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7951923	STK33	cis	parietal	SCAN
rs7951923	OR56B4	cis	cerebellum	SCAN
rs7951923	OR5E1P	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8009400-8013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:8009800-8014600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:8009800-8015800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:8010000-8012800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:8010000-8013000	Weak transcription	Placenta	Placenta
6	chr11:8010000-8013000	Weak transcription	Gastric	stomach
7	chr11:8010000-8013200	Weak transcription	Aorta	Aorta
8	chr11:8010000-8013200	Weak transcription	Lung	lung
9	chr11:8010000-8013400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:8010000-8014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:8010200-8012200	Genic enhancers	Brain Hippocampus Middle	brain
12	chr11:8010200-8013000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:8010400-8012200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:8010400-8012800	Weak transcription	Esophagus	oesophagus
15	chr11:8010400-8013000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:8010400-8015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8010600-8013400	Weak transcription	Small Intestine	intestine
18	chr11:8010600-8013800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:8010600-8014200	Weak transcription	Fetal Kidney	kidney
20	chr11:8010600-8020400	Strong transcription	NH-A	brain
21	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:8010800-8012200	Genic enhancers	Dnd41	blood
26	chr11:8010800-8012600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:8010800-8012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:8010800-8012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:8010800-8012800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:8010800-8012800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:8010800-8012800	Weak transcription	Fetal Lung	lung
32	chr11:8010800-8012800	Weak transcription	Left Ventricle	heart
33	chr11:8010800-8013000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:8010800-8013000	Weak transcription	Fetal Stomach	stomach
35	chr11:8010800-8013000	Weak transcription	Right Ventricle	heart
36	chr11:8010800-8013200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:8010800-8013200	Weak transcription	Ovary	ovary
38	chr11:8010800-8013200	Weak transcription	Pancreas	Pancrea
39	chr11:8010800-8013200	Weak transcription	NHDF-Ad	bronchial
40	chr11:8010800-8013400	Weak transcription	Spleen	Spleen
41	chr11:8010800-8014000	Weak transcription	Stomach Mucosa	stomach
42	chr11:8010800-8014200	Weak transcription	Fetal Heart	heart
43	chr11:8010800-8014200	Weak transcription	Psoas Muscle	Psoas
44	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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