Variant report

Variant	rs17882241
Chromosome Location	chr11:64980983-64980984
allele	A/C/G
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	chr11:64980694-64981474	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:64980776-64981357	HCT-116	colon:	n/a	n/a
3	MXI1	chr11:64980721-64981408	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:64980886-64981241	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:64980728-64981815	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:64980690-64981757	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:64980895-64981932	GM12878	blood:	n/a	n/a
8	JUND	chr11:64980736-64981224	H1-hESC	embryonic stem cell:	n/a	chr11:64981112-64981120 chr11:64981110-64981122
9	POLR2A	chr11:64980837-64981928	HL-60	blood:	n/a	n/a
10	MAX	chr11:64980720-64981469	H1-hESC	embryonic stem cell:	n/a	chr11:64980814-64980825
11	JUND	chr11:64980829-64981379	H1-hESC	embryonic stem cell:	n/a	chr11:64981112-64981120 chr11:64981110-64981122
12	STAT5A	chr11:64980744-64981433	GM12878	blood:	n/a	chr11:64981273-64981285
13	TAF1	chr11:64980860-64981488	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:64980968-64981332	A549	lung:	n/a	n/a
15	POLR2A	chr11:64980664-64982018	K562	blood:	n/a	n/a
16	SP1	chr11:64980718-64981354	H1-hESC	embryonic stem cell:	n/a	chr11:64981161-64981170 chr11:64981157-64981171 chr11:64981271-64981285 chr11:64981067-64981081
17	EP300	chr11:64980698-64981447	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr11:64980822-64981466	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP4	chr11:64980712-64981461	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr11:64980725-64981439	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:64980639-64982051	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUN	chr11:64980866-64981248	H1-hESC	embryonic stem cell:	n/a	chr11:64981112-64981120 chr11:64981110-64981122
23	POLR2A	chr11:64980593-64982031	PANC-1	pancreas:	n/a	n/a
24	CEBPB	chr11:64980832-64981322	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:64979307-64981815	K562	blood:	n/a	n/a
26	SIN3AK20	chr11:64980785-64981007	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:64980755-64981596	K562	blood:	n/a	n/a
28	GTF2F1	chr11:64980783-64981371	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr11:64980703-64981350	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr11:64980697-64981046	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr11:64980806-64982417	NB4	blood:	n/a	chr11:64980814-64980825
32	YY1	chr11:64980753-64981514	H1-hESC	embryonic stem cell:	n/a	chr11:64981161-64981172
33	POLR2A	chr11:64980833-64981291	HUVEC	blood vessel:	n/a	n/a
34	CHD2	chr11:64980731-64981518	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr11:64980715-64981346	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:64980706-64981907	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3A	chr11:64980731-64981307	H1-hESC	embryonic stem cell:	n/a	chr11:64980872-64980880
38	MAX	chr11:64980708-64981580	H1-hESC	embryonic stem cell:	n/a	chr11:64980814-64980825
39	POLR2A	chr11:64980814-64981908	U87	brain:	n/a	n/a
40	POLR2A	chr11:64980805-64981302	GM12891	blood:	n/a	n/a
41	ZNF143	chr11:64980790-64981422	H1-hESC	embryonic stem cell:	n/a	chr11:64981274-64981292
42	ATF2	chr11:64980655-64981303	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr11:64980754-64981285	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr11:64980883-64982126	NB4	blood:	n/a	n/a
45	POLR2A	chr11:64980816-64981824	U87	brain:	n/a	n/a
46	POLR2A	chr11:64980654-64981539	GM12892	blood:	n/a	n/a
47	SP1	chr11:64980707-64981402	H1-hESC	embryonic stem cell:	n/a	chr11:64981161-64981170 chr11:64981157-64981171 chr11:64981271-64981285 chr11:64981067-64981081
48	USF1	chr11:64980656-64981086	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr11:64980731-64981561	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr11:64980904-64981326	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64972801..64975129-chr11:64978366..64981061,2	MCF-7	breast:
2	chr11:64896573..64898665-chr11:64978684..64981304,2	K562	blood:
3	chr11:64936901..64940048-chr11:64977014..64981623,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPDYC-1	chr11:64979974-64981116	l_492_chr11:64979303-64980906_76bGuttman_hLF

Variant related genes	Relation type
SLC22A20	TF binding region
ENSG00000162298	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs60034183	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
2	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
3	chr11:64964400-64981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:64973800-64992600	Weak transcription	Fetal Kidney	kidney
5	chr11:64975800-64982400	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:64976600-64992600	Weak transcription	Psoas Muscle	Psoas
7	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
8	chr11:64977600-64993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:64978200-64982800	Weak transcription	Fetal Lung	lung
10	chr11:64978200-64986800	Weak transcription	HepG2	liver
11	chr11:64978400-64992200	Weak transcription	Stomach Mucosa	stomach
12	chr11:64978400-64992800	Weak transcription	HSMM	muscle
13	chr11:64978600-64981200	Weak transcription	Primary T cells from cord blood	blood
14	chr11:64978600-64992800	Weak transcription	HSMMtube	muscle
15	chr11:64978800-64981000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:64978800-64987000	Weak transcription	NHDF-Ad	bronchial
17	chr11:64979000-64981600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:64979200-64981000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64979200-64981000	Weak transcription	Adipose Nuclei	Adipose
20	chr11:64979200-64981000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:64979200-64981000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:64979200-64981000	Weak transcription	Osteobl	bone
23	chr11:64979200-64981200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:64979200-64981400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:64979200-64983000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:64979200-64983400	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:64979200-64986400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:64979200-64987000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:64979200-64992400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:64979200-64993000	Weak transcription	Aorta	Aorta
31	chr11:64979400-64981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:64979400-64981800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:64979400-64982200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:64979400-64984400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:64979400-64987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:64979400-64992400	Weak transcription	A549	lung
37	chr11:64979600-64981000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:64979600-64981000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:64979600-64981200	Enhancers	K562	blood
40	chr11:64979600-64981600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:64979600-64981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:64979600-64984800	Weak transcription	Fetal Brain Female	brain
43	chr11:64979600-64986400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:64979600-64990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:64979600-64992200	Weak transcription	NHEK	skin
46	chr11:64979800-64981000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:64979800-64981200	Enhancers	Thymus	Thymus
48	chr11:64979800-64981400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:64979800-64981400	Enhancers	Fetal Intestine Large	intestine
50	chr11:64979800-64981600	Enhancers	Placenta	Placenta

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