Variant report

Variant	rs7114081
Chromosome Location	chr11:71704347-71704348
allele	A/T
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	chr11:71704188-71704751	GM12892	blood:	n/a	n/a
2	MYC	chr11:71704289-71704474	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:71704239-71704576	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:71704094-71704807	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:71704044-71704826	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:71704183-71704806	GM12891	blood:	n/a	n/a
7	ZNF384	chr11:71704300-71705064	GM12878	blood:	n/a	n/a
8	SPI1	chr11:71704301-71705309	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:71704126-71704740	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:71704070-71704679	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:71704153-71704815	Raji	blood:	n/a	n/a
12	MTA3	chr11:71704130-71704932	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:71704091-71704567	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:71704045-71704760	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71703508..71707371-chr11:71709245..71711101,3	K562	blood:
2	chr11:71697459..71698980-chr11:71703170..71705876,2	MCF-7	breast:

Variant related genes	Relation type
RNF121	TF binding region
ENSG00000137496	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17161699	1.00[ASW][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap]
rs17161725	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17161758	1.00[ASW][hapmap];0.84[LWK][hapmap]
rs17161976	1.00[ASW][hapmap];0.81[YRI][hapmap]
rs34966470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56747669	0.88[AFR][1000 genomes]
rs56891737	0.88[AFR][1000 genomes]
rs5743677	1.00[MEX][hapmap]
rs7122209	1.00[ASW][hapmap]
rs7124429	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932263	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7938674	1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs7949430	1.00[ASW][hapmap];0.92[LWK][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs7951267	0.81[YRI][hapmap]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7114081	CAST	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
2	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
3	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
4	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
8	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:71678000-71710600	Weak transcription	HMEC	breast
12	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:71691400-71705800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:71695200-71705800	Weak transcription	Lung	lung
17	chr11:71695200-71706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:71695200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:71695200-71709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
21	chr11:71695400-71707600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:71695400-71709800	Weak transcription	Dnd41	blood
23	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
25	chr11:71698600-71708800	Strong transcription	A549	lung
26	chr11:71699400-71706400	Weak transcription	Right Ventricle	heart
27	chr11:71699400-71707800	Weak transcription	Hela-S3	cervix
28	chr11:71699400-71710200	Weak transcription	NHDF-Ad	bronchial
29	chr11:71699600-71706200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:71699600-71706400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:71699600-71706400	Weak transcription	Ovary	ovary
32	chr11:71699600-71707800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:71699600-71710000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:71699600-71710000	Weak transcription	NHLF	lung
35	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
36	chr11:71699800-71705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:71699800-71709200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:71700000-71706000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:71701000-71704400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:71701000-71704800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:71701000-71706400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:71701000-71708400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:71701200-71704400	Strong transcription	HSMMtube	muscle
44	chr11:71701200-71708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:71701200-71709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:71701400-71704800	Strong transcription	Osteobl	bone
47	chr11:71701400-71705200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:71701600-71704600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:71701600-71704800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:71701800-71704600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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