Variant report

Variant	rs36207715
Chromosome Location	chr11:73721561-73721562
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	CBX3	chr11:73721426-73721900	K562	blood:	n/a	n/a
2	CTCF	chr11:73721520-73721670	GM12871	blood:	n/a	n/a
3	E2F6	chr11:73721038-73723104	K562	blood:	n/a	n/a
4	TBL1XR1	chr11:73721356-73721964	K562	blood:	n/a	n/a
5	POLR2A	chr11:73721523-73721793	K562	blood:	n/a	n/a
6	GATA2	chr11:73721433-73721882	K562	blood:	n/a	n/a
7	SPI1	chr11:73721524-73721780	K562	blood:	n/a	n/a
8	SPI1	chr11:73721486-73721740	K562	blood:	n/a	n/a
9	GATA1	chr11:73721471-73723305	K562	blood:	n/a	n/a
10	POLR2A	chr11:73721038-73723038	K562	blood:	n/a	n/a
11	TEAD4	chr11:73721400-73721900	K562	blood:	n/a	n/a
12	CTCF	chr11:73721480-73721750	GM12864	blood:	n/a	n/a
13	MAX	chr11:73720913-73721984	K562	blood:	n/a	chr11:73721152-73721168 chr11:73721161-73721171 chr11:73721161-73721170 chr11:73721162-73721169 chr11:73721161-73721170
14	TEAD4	chr11:73720822-73722162	K562	blood:	n/a	n/a
15	NR2F2	chr11:73721426-73721878	K562	blood:	n/a	n/a
16	RCOR1	chr11:73721139-73721857	K562	blood:	n/a	n/a
17	NR2F2	chr11:73720977-73721973	K562	blood:	n/a	n/a
18	ELF1	chr11:73721534-73721799	K562	blood:	n/a	n/a
19	POLR2A	chr11:73721412-73723159	PBDE	blood:	n/a	n/a
20	ELF1	chr11:73721402-73721848	K562	blood:	n/a	n/a
21	UBTF	chr11:73721270-73721956	K562	blood:	n/a	n/a
22	BHLHE40	chr11:73721013-73721766	K562	blood:	n/a	chr11:73721160-73721176
23	MAFF	chr11:73721544-73721645	K562	blood:	n/a	n/a
24	USF2	chr11:73721532-73721725	K562	blood:	n/a	n/a
25	HDAC2	chr11:73721478-73721872	K562	blood:	n/a	n/a
26	REST	chr11:73721506-73721801	K562	blood:	n/a	n/a
27	TAL1	chr11:73721040-73721844	K562	blood:	n/a	chr11:73721210-73721228
28	CCNT2	chr11:73721491-73721786	K562	blood:	n/a	n/a
29	POLR2A	chr11:73721312-73721868	Hela-S3	cervix:	n/a	n/a
30	HDAC2	chr11:73721470-73721731	K562	blood:	n/a	n/a
31	MYC	chr11:73720968-73723112	K562	blood:	n/a	chr11:73721152-73721168 chr11:73721161-73721171 chr11:73722924-73722939 chr11:73721161-73721170 chr11:73721162-73721169 chr11:73721161-73721170
32	EP300	chr11:73721054-73721833	K562	blood:	n/a	chr11:73721125-73721139
33	RCOR1	chr11:73721106-73722115	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73721341..73724009-chr11:73846427..73849046,2	K562	blood:
2	chr11:73706040..73708371-chr11:73720547..73722374,2	K562	blood:
3	chr11:73692930..73695834-chr11:73720548..73723586,4	K562	blood:
4	chr11:73721549..73725219-chr11:73728115..73731399,4	MCF-7	breast:
5	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:
6	chr11:73721505..73724045-chr11:73730845..73732782,2	MCF-7	breast:

Variant related genes	Relation type
UCP3	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000256723	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1095419	1.00[EUR][1000 genomes]
rs1095420	1.00[EUR][1000 genomes]
rs1095428	1.00[EUR][1000 genomes]
rs12275089	1.00[EUR][1000 genomes]
rs12280063	1.00[EUR][1000 genomes]
rs12287317	1.00[EUR][1000 genomes]
rs12291461	1.00[EUR][1000 genomes]
rs1320428	1.00[EUR][1000 genomes]
rs1320429	1.00[EUR][1000 genomes]
rs1617256	1.00[EUR][1000 genomes]
rs1618253	1.00[EUR][1000 genomes]
rs1622307	1.00[EUR][1000 genomes]
rs1685337	1.00[EUR][1000 genomes]
rs1685343	1.00[EUR][1000 genomes]
rs1726753	1.00[EUR][1000 genomes]
rs1726754	1.00[EUR][1000 genomes]
rs1726757	1.00[EUR][1000 genomes]
rs1726758	1.00[EUR][1000 genomes]
rs1726760	1.00[EUR][1000 genomes]
rs1726761	1.00[EUR][1000 genomes]
rs1726765	1.00[EUR][1000 genomes]
rs1726767	1.00[EUR][1000 genomes]
rs1726768	1.00[EUR][1000 genomes]
rs58358133	1.00[AMR][1000 genomes]
rs699140	1.00[EUR][1000 genomes]
rs699141	1.00[EUR][1000 genomes]
rs7123549	1.00[EUR][1000 genomes]
rs826032	1.00[EUR][1000 genomes]
rs826034	1.00[EUR][1000 genomes]
rs826036	1.00[EUR][1000 genomes]
rs826037	1.00[EUR][1000 genomes]
rs826040	1.00[EUR][1000 genomes]
rs826041	1.00[EUR][1000 genomes]
rs826043	1.00[EUR][1000 genomes]
rs826045	1.00[EUR][1000 genomes]
rs826047	1.00[EUR][1000 genomes]
rs826052	1.00[EUR][1000 genomes]
rs826063	1.00[EUR][1000 genomes]
rs826065	1.00[EUR][1000 genomes]
rs826070	1.00[EUR][1000 genomes]
rs826080	1.00[EUR][1000 genomes]
rs826086	1.00[EUR][1000 genomes]
rs826088	1.00[EUR][1000 genomes]
rs826091	1.00[EUR][1000 genomes]
rs861144	1.00[EUR][1000 genomes]
rs941250	1.00[EUR][1000 genomes]
rs941253	1.00[EUR][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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
5	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
6	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
7	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:73712200-73726800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:73712400-73721800	Weak transcription	Colonic Mucosa	Colon
13	chr11:73712600-73722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:73713600-73725000	Weak transcription	A549	lung
16	chr11:73714000-73726000	Weak transcription	Esophagus	oesophagus
17	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
18	chr11:73714600-73727200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:73714800-73721600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:73714800-73724000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:73715000-73722200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:73715000-73729800	Weak transcription	Ovary	ovary
23	chr11:73715200-73722000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:73715200-73722600	Weak transcription	NHLF	lung
25	chr11:73715200-73722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:73715200-73727200	Weak transcription	Fetal Lung	lung
27	chr11:73715200-73727400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:73715400-73722600	Weak transcription	HSMMtube	muscle
29	chr11:73715400-73727400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:73715600-73722000	Weak transcription	HSMM	muscle
31	chr11:73716000-73723400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:73716200-73722400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:73716200-73722600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:73716200-73722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73716200-73723400	Weak transcription	Gastric	stomach
36	chr11:73716200-73727600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:73716400-73722200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73716400-73723600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:73716400-73728000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:73716600-73722400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:73716600-73722400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:73716600-73723400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:73716600-73727400	Weak transcription	Brain Angular Gyrus	brain
44	chr11:73716800-73721800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:73716800-73722400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:73716800-73723600	Weak transcription	Aorta	Aorta
47	chr11:73716800-73726400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:73716800-73727600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:73717000-73721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:73717000-73723000	Enhancers	Primary T cells from cord blood	blood

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