Variant report

Variant	rs200048907
Chromosome Location	chr11:66610418-66610419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:66610406-66611447	GM12878	blood:	n/a	n/a
2	MAZ	chr11:66610351-66611318	Hela-S3	cervix:	n/a	n/a
3	MAX	chr11:66610254-66611607	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:66609503-66611705	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:66608869-66611525	IMR90	lung:	n/a	n/a
6	POLR2A	chr11:66609968-66611477	Raji	blood:	n/a	n/a
7	MYC	chr11:66610384-66610558	HepG2	liver:	n/a	n/a
8	STAT1	chr11:66610393-66611250	GM12878	blood:	n/a	n/a
9	GABPA	chr11:66610312-66610602	HepG2	liver:	n/a	n/a
10	MAZ	chr11:66610207-66611441	GM12878	blood:	n/a	n/a
11	MYC	chr11:66610397-66611231	K562	blood:	n/a	n/a
12	POLR2A	chr11:66609729-66611748	HCT-116	colon:	n/a	n/a
13	YY1	chr11:66610224-66611487	HepG2	liver:	n/a	chr11:66610857-66610866
14	CREB1	chr11:66610226-66611501	H1-hESC	embryonic stem cell:	n/a	chr11:66610864-66610877
15	POLR2A	chr11:66610289-66611518	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:66609570-66613686	SK-N-MC	brain:	n/a	n/a
17	ELF1	chr11:66610051-66611512	MCF-7	breast:	n/a	n/a
18	HEY1	chr11:66610213-66611284	HepG2	liver:	n/a	chr11:66610853-66610868 chr11:66610867-66610876 chr11:66610865-66610874
19	CCNT2	chr11:66610328-66611329	K562	blood:	n/a	n/a
20	UBTF	chr11:66610389-66610687	K562	blood:	n/a	n/a
21	POLR2A	chr11:66608785-66612814	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:66609194-66617823	K562	blood:	n/a	n/a
23	MAX	chr11:66610239-66611594	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr11:66610137-66611309	MCF-7	breast:	n/a	n/a
25	GABPA	chr11:66610299-66611502	K562	blood:	n/a	chr11:66611147-66611156
26	MAZ	chr11:66610072-66611613	IMR90	lung:	n/a	n/a
27	NR2F2	chr11:66610247-66611534	MCF-7	breast:	n/a	n/a
28	YY1	chr11:66610239-66611348	GM12892	blood:	n/a	chr11:66610857-66610866
29	POLR2A	chr11:66609786-66612359	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr11:66610336-66611165	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:66610233-66611357	NB4	blood:	n/a	n/a
32	STAT5A	chr11:66610026-66611296	GM12878	blood:	n/a	n/a
33	JUND	chr11:66610050-66611719	A549	lung:	n/a	chr11:66610866-66610875
34	MAX	chr11:66610083-66611311	NB4	blood:	n/a	n/a
35	CTCF	chr11:66610400-66610550	NHEK	skin:	n/a	n/a
36	POLR2A	chr11:66610318-66611491	A549	lung:	n/a	n/a
37	REST	chr11:66610368-66611754	HL-60	blood:	n/a	chr11:66610589-66610602
38	POLR2A	chr11:66609891-66613888	Hela-S3	cervix:	n/a	n/a
39	YY1	chr11:66610219-66611291	GM12878	blood:	n/a	chr11:66610857-66610866
40	POLR2A	chr11:66610024-66611373	GM12892	blood:	n/a	n/a
41	YY1	chr11:66610383-66611349	K562	blood:	n/a	chr11:66610857-66610866
42	ELF1	chr11:66610287-66611054	HepG2	liver:	n/a	n/a
43	TAF1	chr11:66610268-66611220	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:66608768-66611588	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:66610312-66611516	A549	lung:	n/a	n/a
46	MAX	chr11:66610303-66611542	ECC-1	luminal epithelium:	n/a	n/a
47	CHD2	chr11:66610344-66611335	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr11:66610284-66611537	MCF-7	breast:	n/a	n/a
49	RAD21	chr11:66610206-66611527	IMR90	lung:	n/a	n/a
50	JUND	chr11:66610210-66611588	MCF-7	breast:	n/a	chr11:66610866-66610875

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66382834..66385976-chr11:66609299..66612112,4	MCF-7	breast:
2	chr11:66510950..66513951-chr11:66609441..66612389,4	MCF-7	breast:
3	chr11:66610325..66612504-chr12:53441243..53443026,2	MCF-7	breast:
4	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
5	chr1:40626701..40627562-chr11:66610304..66610866,2	Hela-S3	cervix:
6	chr11:66587872..66589833-chr11:66608211..66610611,2	K562	blood:
7	chr11:66444643..66447365-chr11:66608477..66611039,2	MCF-7	breast:
8	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
9	chr11:66443889..66445680-chr11:66609374..66612463,3	K562	blood:
10	chr11:66404049..66406988-chr11:66609291..66612357,4	MCF-7	breast:
11	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
12	chr11:66610368..66612581-chr11:66793604..66796937,3	MCF-7	breast:
13	chr11:66240024..66242825-chr11:66609200..66612137,2	MCF-7	breast:
14	chr11:66610398..66611087-chr5:177631492..177632244,2	Hela-S3	cervix:
15	chr11:66486907..66489706-chr11:66608896..66612610,3	MCF-7	breast:
16	chr11:66457271..66460204-chr11:66608971..66610490,2	MCF-7	breast:
17	chr11:66443889..66447498-chr11:66608460..66612257,3	K562	blood:
18	chr11:66610316..66610984-chr13:26795927..26796516,2	NB4	blood:
19	chr11:66610287..66613457-chr11:66821215..66824724,5	MCF-7	breast:
20	chr11:66609744..66612707-chr12:120727053..120729795,2	MCF-7	breast:
21	chr1:109642397..109642939-chr11:66610097..66610939,2	Hela-S3	cervix:
22	chr11:66588753..66591298-chr11:66609854..66611938,2	MCF-7	breast:
23	chr11:66609254..66612019-chr11:66742000..66745352,5	MCF-7	breast:
24	chr11:66410966..66412972-chr11:66609483..66612002,2	MCF-7	breast:
25	chr1:38273030..38274030-chr11:66610360..66610899,2	Hela-S3	cervix:
26	chr11:66610397..66611005-chr2:97303824..97304693,2	Hela-S3	cervix:
27	chr11:66610361..66610995-chr14:75760837..75761676,2	HCT-116	colon:
28	chr11:66609696..66614934-chr11:66722798..66726985,5	K562	blood:
29	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
30	chr11:66607838..66611911-chr11:66724380..66727140,5	MCF-7	breast:
31	chr11:66610071..66611807-chr11:66762959..66765909,2	MCF-7	breast:
32	chr11:66382897..66385636-chr11:66609327..66612725,4	MCF-7	breast:

No data

Variant related genes	Relation type
RCE1	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000117000	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000119660	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000127870	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000259687	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000197982	Chromatin interaction
ENSG00000196449	Chromatin interaction
ENSG00000111077	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173237	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000270066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv3338969	chr11:66609601-66612149	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 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	chr11:66608800-66610600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:66609200-66610600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:66609400-66610600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:66609400-66611800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66609400-66612200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:66609600-66612400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:66609800-66611200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:66609800-66611400	Active TSS	HSMM	muscle
9	chr11:66609800-66611600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:66609800-66611600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:66609800-66611800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:66609800-66611800	Active TSS	Ovary	ovary
13	chr11:66609800-66612000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:66610000-66611200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:66610000-66611200	Active TSS	Thymus	Thymus
16	chr11:66610000-66611400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:66610000-66611400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr11:66610000-66611400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66610000-66611400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:66610000-66611400	Active TSS	Primary T cells from cord blood	blood
21	chr11:66610000-66611400	Active TSS	Fetal Intestine Large	intestine
22	chr11:66610000-66611400	Active TSS	Fetal Intestine Small	intestine
23	chr11:66610000-66611400	Active TSS	Pancreas	Pancrea
24	chr11:66610000-66611400	Active TSS	Small Intestine	intestine
25	chr11:66610000-66611400	Active TSS	NH-A	brain
26	chr11:66610000-66611400	Active TSS	NHEK	skin
27	chr11:66610000-66611600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:66610000-66611600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:66610000-66611600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:66610000-66611600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:66610000-66611600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:66610000-66611600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:66610000-66611600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:66610000-66611600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:66610000-66611600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:66610000-66611600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:66610000-66611600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:66610000-66611600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:66610000-66611600	Active TSS	Aorta	Aorta
40	chr11:66610000-66611600	Active TSS	Esophagus	oesophagus
41	chr11:66610000-66611600	Active TSS	Gastric	stomach
42	chr11:66610000-66611600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr11:66610000-66611600	Active TSS	GM12878-XiMat	blood
44	chr11:66610000-66611600	Bivalent/Poised TSS	HepG2	liver
45	chr11:66610000-66611600	Active TSS	HSMMtube	muscle
46	chr11:66610000-66611600	Active TSS	K562	blood
47	chr11:66610000-66611600	Active TSS	NHDF-Ad	bronchial
48	chr11:66610000-66611600	Active TSS	NHLF	lung
49	chr11:66610000-66611800	Active TSS	Fetal Kidney	kidney
50	chr11:66610000-66611800	Active TSS	A549	lung

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