Variant report

Variant	rs57866382
Chromosome Location	chr11:67207197-67207198
allele	A/C
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	chr11:67198736-67211579	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67206931-67207459	ProgFib	skin:	n/a	n/a
3	POLR2A	chr11:67205666-67209002	K562	blood:	n/a	n/a
4	POLR2A	chr11:67206768-67207296	MCF-7	breast:	n/a	n/a
5	RUNX3	chr11:67206503-67207245	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67200521-67212166	K562	blood:	n/a	n/a
7	POLR2A	chr11:67206511-67208171	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:67206649-67207361	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67199088-67207292	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:67206929-67207320	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:67198947-67207334	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:67206644-67208974	HepG2	liver:	n/a	n/a
13	EBF1	chr11:67206779-67207275	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67201705-67209206	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:67206855-67208018	HUVEC	blood vessel:	n/a	n/a
16	RAD21	chr11:67206716-67207200	MCF-7	breast:	n/a	chr11:67206925-67206939 chr11:67206924-67206943 chr11:67206837-67206849
17	BCL3	chr11:67206719-67207286	A549	lung:	n/a	chr11:67206852-67206861
18	POLR2A	chr11:67204881-67211417	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:67204617-67208372	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:67206769-67207237	HCT-116	colon:	n/a	n/a
21	POLR2A	chr11:67206808-67207376	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:67206545-67207242	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:67201074-67209001	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr11:67202451-67208499	SK-N-MC	brain:	n/a	n/a
25	RAD21	chr11:67206549-67207227	HCT-116	colon:	n/a	chr11:67206925-67206939 chr11:67206924-67206943 chr11:67206837-67206849
26	CTCF	chr11:67206786-67207197	GM19239	blood:	n/a	chr11:67206923-67206941 chr11:67206926-67206939
27	CTCF	chr11:67206603-67207253	HCT-116	colon:	n/a	chr11:67206923-67206941 chr11:67206926-67206939
28	POLR2A	chr11:67204657-67209717	ECC-1	luminal epithelium:	n/a	n/a
29	MTA3	chr11:67198952-67207449	GM12878	blood:	n/a	n/a
30	EBF1	chr11:67206736-67207320	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67198622-67210790	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:67204834-67211350	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:67199833-67207816	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67198910-67207363	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:67197957-67210886	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:67204737-67208027	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:67198638-67208537	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:67205603-67208501	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr11:67204755-67208474	U87	brain:	n/a	n/a
40	POLR2A	chr11:67206737-67207314	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr11:67207011-67207915	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:67206421-67207332	U87	brain:	n/a	n/a
43	POLR2A	chr11:67204774-67208218	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:67206439-67207304	K562	blood:	n/a	n/a
45	CTCF	chr11:67206480-67207260	A549	lung:	n/a	chr11:67206923-67206941 chr11:67206926-67206939
46	POLR2A	chr11:67206565-67208118	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:67206843-67207337	GM12891	blood:	n/a	n/a
48	EBF1	chr11:67206747-67207282	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:67200689-67210558	K562	blood:	n/a	n/a
50	POLR2A	chr11:67204677-67208172	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
2	chr11:67206947..67211030-chr11:67273670..67277577,4	MCF-7	breast:
3	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
4	chr11:67204954..67212426-chr11:67228820..67232211,6	K562	blood:
5	chr11:67206434..67207370-chr11:67273273..67274587,5	MCF-7	breast:
6	chr11:67205296..67207654-chr11:67248873..67250891,2	MCF-7	breast:
7	chr11:67206674..67207733-chr11:67236442..67237096,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255949	TF binding region
PTPRCAP	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000270169	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10896176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17847832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3815364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56769021	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57538070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60652240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61035249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61739507	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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 miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
23	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 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	chr11:67196800-67210200	Weak transcription	Fetal Kidney	kidney
2	chr11:67197200-67209400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:67197200-67209800	Weak transcription	Fetal Heart	heart
4	chr11:67197200-67210000	Strong transcription	Fetal Brain Female	brain
5	chr11:67197200-67210000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:67197400-67209400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:67197600-67208200	Strong transcription	Brain Germinal Matrix	brain
8	chr11:67197600-67209400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:67198200-67209600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:67198200-67209600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:67198200-67209800	Strong transcription	NHLF	lung
12	chr11:67198400-67207800	Strong transcription	Lung	lung
13	chr11:67198800-67207400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:67200600-67208800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:67201000-67209800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:67201200-67207600	Weak transcription	Fetal Lung	lung
17	chr11:67201200-67207600	Weak transcription	HUVEC	blood vessel
18	chr11:67201600-67210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:67202000-67207200	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr11:67202200-67210200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:67202400-67209800	Weak transcription	HepG2	liver
22	chr11:67202400-67210200	Weak transcription	Psoas Muscle	Psoas
23	chr11:67203000-67207600	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
24	chr11:67203200-67210000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:67203200-67210400	Weak transcription	Ovary	ovary
26	chr11:67203600-67208000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:67203800-67209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:67203800-67210400	Weak transcription	Aorta	Aorta
29	chr11:67204800-67208000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:67204800-67209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:67204800-67209800	Genic enhancers	Right Ventricle	heart
32	chr11:67205000-67208400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:67205000-67209800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:67205200-67208000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:67205200-67208000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:67205200-67208400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:67205200-67208600	Strong transcription	Fetal Intestine Small	intestine
38	chr11:67205200-67208800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:67205200-67209800	Genic enhancers	Placenta	Placenta
40	chr11:67205400-67208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:67205400-67209400	Weak transcription	K562	blood
42	chr11:67205400-67209600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:67205400-67209800	Weak transcription	NH-A	brain
44	chr11:67205600-67208200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:67205600-67208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:67205600-67209800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:67205600-67209800	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr11:67205600-67210000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:67205600-67210200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:67205600-67210400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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