Variant report

Variant	rs7940672
Chromosome Location	chr11:9593574-9593575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:9592789-9600461	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:9593229-9595672	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:9593209-9597897	PANC-1	pancreas:	n/a	n/a
6	HA-E2F1	chr11:9593538-9594052	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:9592835-9595687	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
2	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
3	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
4	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
5	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
6	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
7	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
8	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:

No data

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1049403	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10770042	0.87[EUR][1000 genomes]
rs10840263	0.86[EUR][1000 genomes]
rs11042426	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042429	0.82[ASN][1000 genomes]
rs11042431	0.87[EUR][1000 genomes]
rs12799030	0.87[EUR][1000 genomes]
rs35981065	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3829254	0.92[ASN][1000 genomes]
rs7131557	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927591	0.94[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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
2	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
3	chr11:9585200-9593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
5	chr11:9585200-9594400	Weak transcription	Lung	lung
6	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
7	chr11:9586600-9594000	Enhancers	Placenta	Placenta
8	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
9	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:9588000-9594400	Weak transcription	Gastric	stomach
11	chr11:9588600-9593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:9588600-9594000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:9589600-9594200	Enhancers	Primary B cells from cord blood	blood
14	chr11:9589800-9594200	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:9590000-9594200	Weak transcription	Fetal Brain Male	brain
16	chr11:9590000-9594200	Weak transcription	Ovary	ovary
17	chr11:9590600-9594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:9590600-9594200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:9590800-9593800	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:9591000-9593800	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:9591000-9594000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:9591000-9594000	Weak transcription	Fetal Brain Female	brain
23	chr11:9591000-9594000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:9591000-9594200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:9591000-9594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:9591200-9593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:9591200-9593800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:9591200-9593800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:9591200-9593800	Enhancers	Fetal Muscle Leg	muscle
30	chr11:9591200-9593800	Weak transcription	Fetal Thymus	thymus
31	chr11:9591200-9594000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:9591200-9594000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:9591200-9594000	Weak transcription	Adipose Nuclei	Adipose
34	chr11:9591200-9594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:9591200-9594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:9591200-9594400	Weak transcription	Pancreas	Pancrea
37	chr11:9591400-9593800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:9591400-9593800	Weak transcription	Psoas Muscle	Psoas
39	chr11:9591400-9594200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:9591400-9594200	Weak transcription	Colonic Mucosa	Colon
41	chr11:9591400-9594200	Weak transcription	Right Ventricle	heart
42	chr11:9591600-9593800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:9591600-9593800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:9591600-9593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:9591600-9593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:9591600-9593800	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:9591600-9593800	Weak transcription	HUVEC	blood vessel
48	chr11:9591600-9593800	Weak transcription	NH-A	brain
49	chr11:9591600-9593800	Weak transcription	Osteobl	bone
50	chr11:9591600-9594000	Weak transcription	Stomach Smooth Muscle	stomach

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