Variant report

Variant	rs7119915
Chromosome Location	chr11:93523838-93523839
allele	C/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	chr11:93523191-93523860	K562	blood:	n/a	n/a
2	POLR2A	chr11:93523838-93524260	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
2	chr11:93469868..93471439-chr11:93522449..93523956,2	K562	blood:
3	chr11:93516397..93519152-chr11:93523680..93525870,3	MCF-7	breast:
4	chr11:93472896..93475000-chr11:93521473..93523956,3	K562	blood:

Variant related genes	Relation type
MED17	TF binding region
ENSG00000207145	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000206799	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10831109	1.00[MEX][hapmap]
rs11020471	1.00[MEX][hapmap]
rs11020474	1.00[MEX][hapmap]
rs16919376	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919379	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919383	1.00[EUR][1000 genomes]
rs16919384	1.00[EUR][1000 genomes]
rs16919386	1.00[EUR][1000 genomes]
rs16919387	1.00[EUR][1000 genomes]
rs16919390	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16919393	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16919410	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16919459	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2212995	1.00[EUR][1000 genomes]
rs2226872	1.00[EUR][1000 genomes]
rs2434983	1.00[TSI][hapmap]
rs34028557	1.00[EUR][1000 genomes]
rs34298528	1.00[EUR][1000 genomes]
rs34298809	1.00[EUR][1000 genomes]
rs34631197	1.00[EUR][1000 genomes]
rs35454774	1.00[EUR][1000 genomes]
rs35642511	1.00[EUR][1000 genomes]
rs35646601	1.00[EUR][1000 genomes]
rs4284369	1.00[TSI][hapmap]
rs4372406	1.00[EUR][1000 genomes]
rs56893874	1.00[EUR][1000 genomes]
rs57340156	1.00[EUR][1000 genomes]
rs592526	1.00[TSI][hapmap]
rs607826	1.00[TSI][hapmap]
rs61628694	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs657177	1.00[TSI][hapmap]
rs7103189	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7108692	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7109799	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7112202	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7112720	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7112990	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7120747	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7934848	1.00[EUR][1000 genomes]
rs7943111	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93518600-93527800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93519200-93527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:93519200-93527800	Weak transcription	Esophagus	oesophagus
4	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:93520000-93527000	Weak transcription	Colonic Mucosa	Colon
6	chr11:93520200-93549400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:93520400-93524000	Weak transcription	Pancreas	Pancrea
9	chr11:93520400-93524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:93520400-93527800	Weak transcription	Right Ventricle	heart
11	chr11:93520400-93529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:93520400-93529600	Weak transcription	Stomach Mucosa	stomach
13	chr11:93520400-93549200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:93520400-93549400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:93520600-93524000	Weak transcription	Brain Germinal Matrix	brain
16	chr11:93520600-93540000	Weak transcription	Right Atrium	heart
17	chr11:93520600-93548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:93520800-93527000	Weak transcription	Fetal Heart	heart
20	chr11:93520800-93529400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:93520800-93549000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:93520800-93549200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:93520800-93549200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:93520800-93549400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:93521000-93525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:93521000-93533000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:93521000-93533000	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:93521000-93547800	Strong transcription	Hela-S3	cervix
31	chr11:93521000-93548600	Strong transcription	NH-A	brain
32	chr11:93521000-93549200	Strong transcription	Fetal Thymus	thymus
33	chr11:93521000-93549600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:93521000-93549600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:93521200-93524400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:93521200-93527600	Strong transcription	NHEK	skin
38	chr11:93521200-93534000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:93521200-93540400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:93521200-93547800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:93521200-93548800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:93521200-93549200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:93521200-93549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:93521200-93549200	Strong transcription	Fetal Intestine Large	intestine
45	chr11:93521200-93549200	Strong transcription	Placenta	Placenta
46	chr11:93521200-93549200	Strong transcription	HUVEC	blood vessel
47	chr11:93521200-93549400	Strong transcription	Primary B cells from cord blood	blood
48	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:93521400-93530800	Strong transcription	NHDF-Ad	bronchial
50	chr11:93521400-93546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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