Variant report

Variant	rs3809058
Chromosome Location	chr11:120206506-120206507
allele	A/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	MXI1	chr11:120205600-120209978	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr11:120206244-120207221	ECC-1	luminal epithelium:	n/a	n/a
3	TBL1XR1	chr11:120205636-120208064	GM12878	blood:	n/a	n/a
4	HA-E2F1	chr11:120206427-120207900	MCF-7	breast:	n/a	chr11:120206524-120206534 chr11:120206968-120206983 chr11:120206770-120206780 chr11:120207350-120207360 chr11:120207206-120207218 chr11:120206546-120206556
5	FOXM1	chr11:120206425-120207131	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:120206161-120207970	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:120206371-120207623	K562	blood:	n/a	n/a
8	MXI1	chr11:120206341-120207334	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:120206394-120207539	HepG2	liver:	n/a	n/a
10	RAD21	chr11:120206474-120207261	SK-N-SH_RA	brain:	n/a	chr11:120207240-120207254
11	RAD21	chr11:120205587-120209218	SK-N-SH	brain:	n/a	chr11:120207479-120207493 chr11:120207240-120207254 chr11:120205685-120205699 chr11:120205686-120205705 chr11:120207368-120207382
12	POLR2A	chr11:120206428-120207455	HCT-116	colon:	n/a	n/a
13	RUNX3	chr11:120206368-120207257	GM12878	blood:	n/a	n/a
14	FOXM1	chr11:120206436-120207527	GM12878	blood:	n/a	n/a
15	CTCF	chr11:120206420-120206570	GM12875	blood:	n/a	n/a
16	MAX	chr11:120206369-120208352	Hela-S3	cervix:	n/a	n/a
17	MTA3	chr11:120205595-120207058	GM12878	blood:	n/a	n/a
18	MAX	chr11:120206317-120207616	A549	lung:	n/a	chr11:120206335-120206344
19	ZBTB7A	chr11:120206322-120207202	ECC-1	luminal epithelium:	n/a	n/a
20	MYC	chr11:120206477-120206643	K562	blood:	n/a	n/a
21	CHD1	chr11:120205964-120207427	GM12878	blood:	n/a	n/a
22	MAX	chr11:120206427-120207310	HepG2	liver:	n/a	n/a
23	MAX	chr11:120206288-120207995	GM12878	blood:	n/a	chr11:120206335-120206344
24	POLR2A	chr11:120205612-120208129	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:120206364-120208136	K562	blood:	n/a	n/a
26	CTCF	chr11:120206440-120206590	A549	lung:	n/a	n/a
27	CCNT2	chr11:120206375-120207714	K562	blood:	n/a	chr11:120206949-120206958 chr11:120207605-120207614
28	TBP	chr11:120206270-120208794	K562	blood:	n/a	n/a
29	POLR2A	chr11:120206336-120207758	ECC-1	luminal epithelium:	n/a	n/a
30	PBX3	chr11:120206358-120207238	SK-N-SH	brain:	n/a	n/a
31	TCF12	chr11:120206199-120207252	ECC-1	luminal epithelium:	n/a	chr11:120206448-120206458 chr11:120206229-120206236
32	E2F6	chr11:120206427-120207637	K562	blood:	n/a	chr11:120206524-120206534 chr11:120206968-120206983 chr11:120206770-120206780 chr11:120207350-120207360 chr11:120207206-120207218 chr11:120206546-120206556
33	TCF7L2	chr11:120205676-120206982	HEK293	kidney:	n/a	n/a
34	POLR2A	chr11:120206446-120207916	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr11:120206298-120206557	GM12878	blood:	n/a	chr11:120206448-120206458
36	ZBTB7A	chr11:120206378-120207724	K562	blood:	n/a	n/a
37	POLR2A	chr11:120206391-120207872	GM15510	blood:	n/a	n/a
38	MAZ	chr11:120206389-120208787	K562	blood:	n/a	n/a
39	TAL1	chr11:120206412-120207659	K562	blood:	n/a	n/a
40	TBP	chr11:120205746-120208628	HepG2	liver:	n/a	n/a
41	MAFK	chr11:120206431-120207046	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:120206443-120207641	GM19193	blood:	n/a	n/a
43	GATA1	chr11:120206259-120209666	PBDE	blood:	n/a	chr11:120209301-120209317
44	CTCF	chr11:120205546-120207543	SK-N-SH	brain:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120206188-120206196 chr11:120205686-120205702 chr11:120205685-120205703
45	ZNF143	chr11:120206388-120207655	GM12878	blood:	n/a	chr11:120207441-120207451 chr11:120207117-120207135 chr11:120207607-120207617 chr11:120207140-120207150
46	CTCF	chr11:120205588-120207094	HCT-116	colon:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120206188-120206196 chr11:120205686-120205702 chr11:120205685-120205703
47	HMGN3	chr11:120206342-120207730	K562	blood:	n/a	n/a
48	POLR2A	chr11:120206417-120208107	GM12892	blood:	n/a	n/a
49	POLR2A	chr11:120206461-120208545	HUVEC	blood vessel:	n/a	n/a
50	REST	chr11:120206027-120208034	H1-neurons	neurons:	n/a	chr11:120207291-120207304 chr11:120207288-120207301 chr11:120207288-120207308 chr11:120207288-120207308 chr11:120207289-120207307 chr11:120206816-120206829 chr11:120207288-120207308 chr11:120206490-120206508

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120206461-120206511	K562	blood:	n/a
2	chr11:120206461-120206511	NT2-D1	testis:	n/a
3	chr11:120206461-120206511	Hela-S3	cervix:	n/a
4	chr11:120206461-120206511	SK-N-SH	brain:	n/a
5	chr11:120206461-120206511	Jurkat	blood:	n/a
6	chr11:120206461-120206511	SK-N-MC	brain:	n/a
7	chr11:120206461-120206511	BE2_C	brain:	n/a
8	chr11:120206461-120206511	BJ	skin:	n/a
9	chr11:120206461-120206511	HL-60	blood:	n/a
10	chr11:120206461-120206511	SK-N-SH_RA	brain:	n/a
11	chr11:120206461-120206511	GM12878	blood:	n/a
12	chr11:120206461-120206511	HCM	heart:	n/a
13	chr11:120206461-120206511	MCF10A-Er-Src	breast:	n/a
14	chr11:120206461-120206511	HEK293	kidney:	embryo
15	chr11:120206461-120206511	PFSK-1	brain:	n/a
16	chr11:120206461-120206511	HCT-116	colon:	n/a
17	chr11:120206461-120206511	HRE	kidney:	n/a
18	chr11:120206461-120206511	NHBE	bronchial:	n/a
19	chr11:120206461-120206511	NB4	blood:	n/a
20	chr11:120206461-120206511	Caco-2	colon:	n/a
21	chr11:120206461-120206511	CMK	blood:	n/a
22	chr11:120206461-120206511	NH-A	brain:	n/a
23	chr11:120206461-120206511	HRCEpiC	kidney:	n/a
24	chr11:120206461-120206511	HMEC	breast:	n/a
25	chr11:120206461-120206511	AG04449	skin:	fetal
26	chr11:120206461-120206511	U87	brain:	n/a
27	chr11:120206461-120206511	GM12891	blood:	n/a
28	chr11:120206461-120206511	AG10803	skin:	n/a
29	chr11:120206461-120206511	LNCaP	prostate:	n/a
30	chr11:120206461-120206511	RPTEC	kidney:	n/a
31	chr11:120206461-120206511	HCPEpiC	choroid plexus:	n/a
32	chr11:120206461-120206511	HRPEpiC	eye:	n/a
33	chr11:120206461-120206511	IMR90	lung:	fetal
34	chr11:120206461-120206511	A549	lung:	n/a
35	chr11:120206461-120206511	HCF	heart:	n/a
36	chr11:120206461-120206511	HEEpiC	esophagus:	n/a
37	chr11:120206461-120206511	ProgFib	skin:	n/a
38	chr11:120206461-120206511	SAEC	small airway:	n/a
39	chr11:120206461-120206511	MCF-7	breast:	n/a
40	chr11:120206461-120206511	T-47D	breast:	n/a
41	chr11:120206461-120206511	HepG2	liver:	n/a
42	chr11:120206461-120206511	SKMC	muscle:	n/a
43	chr11:120206461-120206511	AG04450	lung:	fetal
44	chr11:120206461-120206511	Hepatocyte	liver:	n/a
45	chr11:120206461-120206511	AG09309	skin:	n/a
46	chr11:120206461-120206511	AG09319	gingival:	n/a
47	chr11:120206461-120206511	PrEC	prostate:	n/a
48	chr11:120206461-120206511	ovcar-3	ovarian:	n/a
49	chr11:120206461-120206511	HIPEpiC	eye:	n/a
50	chr11:120206461-120206511	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
2	chr11:120204970..120207228-chr21:46755550..46757641,2	K562	blood:
3	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:
4	chr11:120205411..120207219-chr11:120322379..120324809,2	MCF-7	breast:
5	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
6	chr11:120201509..120203556-chr11:120205430..120206977,2	MCF-7	breast:
7	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:
8	chr11:120205169..120207270-chr11:120327184..120328728,2	K562	blood:
9	chr11:120105523..120107872-chr11:120205217..120207566,2	MCF-7	breast:
10	chr11:120206196..120207138-chr17:41465190..41465809,2	Hela-S3	cervix:
11	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
12	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
13	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF12	TF binding region
ARHGEF12	CpG island
ENSG00000188825	Chromatin interaction
ENSG00000196914	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000229382	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12290699	0.80[ASN][1000 genomes]
rs2276111	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv3360321	chr11:120205767-120208715	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120205600-120206600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:120205600-120206600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:120205600-120206600	Flanking Active TSS	HSMMtube	muscle
4	chr11:120205600-120206600	Flanking Active TSS	HUVEC	blood vessel
5	chr11:120205600-120206800	Active TSS	Fetal Brain Male	brain
6	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:120205600-120207200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:120205600-120208200	Active TSS	Stomach Smooth Muscle	stomach
10	chr11:120205600-120208600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120205600-120208800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:120205600-120209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:120205600-120209000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:120205600-120209400	Active TSS	Brain Hippocampus Middle	brain
15	chr11:120205600-120209400	Active TSS	Fetal Intestine Large	intestine
16	chr11:120205600-120209600	Active TSS	Fetal Muscle Trunk	muscle
17	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
21	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
22	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:120205600-120210200	Active TSS	A549	lung
25	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
27	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:120205800-120206600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr11:120205800-120206600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:120205800-120206600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:120205800-120206600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:120205800-120206600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr11:120205800-120206600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:120205800-120206600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:120205800-120206600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:120205800-120206600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr11:120205800-120206600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:120205800-120206800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:120205800-120206800	Flanking Active TSS	HMEC	breast
40	chr11:120205800-120207000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr11:120205800-120207600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:120205800-120207600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:120205800-120207600	Bivalent/Poised TSS	Fetal Thymus	thymus
44	chr11:120205800-120207800	Bivalent/Poised TSS	Thymus	Thymus
45	chr11:120205800-120208000	Active TSS	Brain Substantia Nigra	brain
46	chr11:120205800-120208600	Active TSS	Fetal Intestine Small	intestine
47	chr11:120205800-120208800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:120205800-120208800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:120205800-120209000	Active TSS	Pancreas	Pancrea
50	chr11:120205800-120209000	Active TSS	Stomach Mucosa	stomach

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