Variant report

Variant	rs7941107
Chromosome Location	chr11:8012909-8012910
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	chr11:8012754-8013453	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:8012792-8012951	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:8012639-8013798	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8011622..8013297-chr11:8056375..8059181,2	K562	blood:
2	chr11:8008425..8011151-chr11:8011381..8013712,2	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10839958	1.00[JPT][hapmap]
rs10839960	0.92[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10839962	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11041699	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[MEX][hapmap]
rs11041702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105984	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1132660	0.95[ASN][1000 genomes]
rs12275353	1.00[JPT][hapmap]
rs12278319	1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs12294650	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892448	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3903047	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4076921	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4559682	0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs4758038	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6578918	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6578919	0.86[ASN][1000 genomes]
rs7125891	0.93[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7126561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935597	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7941782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs922062	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7941107	IPO7	cis	parietal	SCAN
rs7941107	C11orf42	cis	parietal	SCAN
rs7941107	GALNTL4	cis	parietal	SCAN
rs7941107	EIF3F	cis	lymphoblastoid	seeQTL

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	chr11:8010000-8013000	Weak transcription	Placenta	Placenta
5	chr11:8010000-8013000	Weak transcription	Gastric	stomach
6	chr11:8010000-8013200	Weak transcription	Aorta	Aorta
7	chr11:8010000-8013200	Weak transcription	Lung	lung
8	chr11:8010000-8013400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:8010000-8014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:8010200-8013000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:8010400-8013000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:8010400-8015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:8010600-8013400	Weak transcription	Small Intestine	intestine
14	chr11:8010600-8013800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:8010600-8014200	Weak transcription	Fetal Kidney	kidney
16	chr11:8010600-8020400	Strong transcription	NH-A	brain
17	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
21	chr11:8010800-8013000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:8010800-8013000	Weak transcription	Fetal Stomach	stomach
23	chr11:8010800-8013000	Weak transcription	Right Ventricle	heart
24	chr11:8010800-8013200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:8010800-8013200	Weak transcription	Ovary	ovary
26	chr11:8010800-8013200	Weak transcription	Pancreas	Pancrea
27	chr11:8010800-8013200	Weak transcription	NHDF-Ad	bronchial
28	chr11:8010800-8013400	Weak transcription	Spleen	Spleen
29	chr11:8010800-8014000	Weak transcription	Stomach Mucosa	stomach
30	chr11:8010800-8014200	Weak transcription	Fetal Heart	heart
31	chr11:8010800-8014200	Weak transcription	Psoas Muscle	Psoas
32	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
40	chr11:8011000-8013000	Weak transcription	Primary T cells from cord blood	blood
41	chr11:8011000-8013000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:8011000-8013000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:8011000-8013200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:8011000-8013200	Weak transcription	Colonic Mucosa	Colon
45	chr11:8011000-8013200	Weak transcription	Thymus	Thymus
46	chr11:8011000-8014000	Weak transcription	Fetal Brain Male	brain
47	chr11:8011000-8016000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:8011000-8016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:8011000-8020200	Strong transcription	Hela-S3	cervix
50	chr11:8011000-8020200	Strong transcription	K562	blood

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