Variant report

Variant	rs73465695
Chromosome Location	chr11:47662778-47662779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:47662599-47665236	K562	blood:	n/a	chr11:47664084-47664093 chr11:47665218-47665227 chr11:47665219-47665226 chr11:47665213-47665228 chr11:47665216-47665227
2	JUND	chr11:47662645-47662886	K562	blood:	n/a	n/a
3	MYC	chr11:47662614-47662890	K562	blood:	n/a	n/a
4	E2F6	chr11:47662590-47662838	K562	blood:	n/a	n/a
5	MXI1	chr11:47662753-47664743	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:47662415-47662802	HepG2	liver:	n/a	n/a
7	HEY1	chr11:47662557-47662887	K562	blood:	n/a	n/a
8	CHD2	chr11:47662746-47662822	K562	blood:	n/a	n/a
9	MAX	chr11:47662595-47662958	K562	blood:	n/a	n/a
10	MAX	chr11:47662454-47662887	K562	blood:	n/a	n/a
11	HCFC1	chr11:47662559-47665501	Hela-S3	cervix:	n/a	n/a
12	BHLHE40	chr11:47662722-47662847	K562	blood:	n/a	n/a
13	UBTF	chr11:47662630-47662842	K562	blood:	n/a	n/a
14	MYC	chr11:47662762-47663413	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr11:47662569-47662875	K562	blood:	n/a	n/a
16	E2F6	chr11:47662631-47662838	K562	blood:	n/a	n/a
17	POLR2A	chr11:47662518-47662781	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47660129..47661788-chr11:47662493..47664105,2	MCF-7	breast:
2	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
3	chr11:47661932..47663606-chr11:47755819..47758646,2	K562	blood:
4	chr11:47660831..47663188-chr11:47962801..47965480,2	K562	blood:
5	chr11:47206285..47208872-chr11:47661768..47663771,2	K562	blood:
6	chr11:47661534..47663358-chr11:47740296..47742508,2	K562	blood:
7	chr11:47662615..47664358-chr11:47788211..47790386,2	K562	blood:
8	chr11:47599811..47601701-chr11:47661212..47663329,2	K562	blood:
9	chr11:47599811..47601393-chr11:47661829..47664063,2	K562	blood:
10	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
11	chr11:47662583..47667763-chr11:47735291..47739208,6	MCF-7	breast:
12	chr11:47662615..47665881-chr11:47786940..47791485,8	K562	blood:
13	chr11:47662579..47666117-chr11:47735408..47738256,8	MCF-7	breast:

No data

Variant related genes	Relation type
MTCH2	TF binding region
ENSG00000109920	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000231880	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56962998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs57175250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57830455	1.00[EUR][1000 genomes]
rs57878668	1.00[EUR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582355	1.00[EUR][1000 genomes]
rs61144745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	1.00[AMR][1000 genomes]
rs73453068	1.00[AMR][1000 genomes]
rs73456963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459751	1.00[EUR][1000 genomes]
rs73459799	1.00[EUR][1000 genomes]
rs73461723	1.00[EUR][1000 genomes]
rs73461734	1.00[EUR][1000 genomes]
rs73461744	1.00[EUR][1000 genomes]
rs73461779	1.00[EUR][1000 genomes]
rs73461796	1.00[EUR][1000 genomes]
rs73461797	1.00[EUR][1000 genomes]
rs73463785	1.00[EUR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	1.00[AMR][1000 genomes];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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv3424537	chr11:47660545-47663980	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47648200-47663200	Weak transcription	Gastric	stomach
4	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:47656200-47662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:47656800-47662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47657000-47663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:47657000-47663200	Weak transcription	Esophagus	oesophagus
9	chr11:47657200-47662800	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:47657200-47663400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:47658800-47663200	Weak transcription	Lung	lung
12	chr11:47660800-47662800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:47661000-47662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:47661000-47662800	Weak transcription	Primary T cells from cord blood	blood
15	chr11:47661000-47662800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:47661000-47663000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:47661200-47662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:47661200-47662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:47661200-47662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:47661200-47663000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:47661200-47663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:47661400-47662800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:47661400-47662800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:47661400-47662800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:47661400-47663000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:47661400-47663200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:47661400-47663200	Weak transcription	Placenta	Placenta
28	chr11:47661800-47662800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:47661800-47663000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:47661800-47663200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:47662000-47662800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:47662000-47662800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:47662000-47662800	Enhancers	Fetal Brain Female	brain
34	chr11:47662000-47663000	Enhancers	Ovary	ovary
35	chr11:47662000-47663000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:47662000-47663200	Enhancers	Small Intestine	intestine
37	chr11:47662000-47663600	Flanking Active TSS	Liver	Liver
38	chr11:47662200-47662800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:47662200-47662800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:47662200-47662800	Enhancers	Fetal Heart	heart
41	chr11:47662200-47662800	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:47662200-47662800	Enhancers	Right Atrium	heart
43	chr11:47662200-47662800	Enhancers	HSMMtube	muscle
44	chr11:47662200-47663000	Enhancers	Brain Angular Gyrus	brain
45	chr11:47662200-47663000	Enhancers	Brain Substantia Nigra	brain
46	chr11:47662200-47663000	Enhancers	Fetal Brain Male	brain
47	chr11:47662200-47663000	Flanking Active TSS	GM12878-XiMat	blood
48	chr11:47662200-47663200	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:47662200-47663200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr11:47662200-47663200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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