Variant report

Variant	rs11537930
Chromosome Location	chr11:66114900-66114901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66114843-66115691	HepG2	liver:	n/a	n/a
2	MAZ	chr11:66114444-66116220	IMR90	lung:	n/a	n/a
3	BCL3	chr11:66114534-66115103	A549	lung:	n/a	n/a
4	POLR2A	chr11:66114856-66115103	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:66114795-66114964	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:66114842-66115656	HEK293	kidney:	n/a	n/a
7	RCOR1	chr11:66114791-66114929	K562	blood:	n/a	n/a
8	RUNX3	chr11:66114731-66115210	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:66114688-66115992	HUVEC	blood vessel:	n/a	n/a
10	YY1	chr11:66114383-66114953	HepG2	liver:	n/a	n/a
11	REST	chr11:66114621-66115054	A549	lung:	n/a	n/a
12	SIN3A	chr11:66114421-66115869	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr11:66114362-66115874	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr11:66114584-66115085	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:66114867-66115664	GM15510	blood:	n/a	n/a
16	POLR2A	chr11:66114888-66115063	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:66114499-66115134	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:66114823-66115741	HUVEC	blood vessel:	n/a	n/a
19	MTA3	chr11:66114458-66115149	GM12878	blood:	n/a	n/a
20	TAF1	chr11:66114556-66115169	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr11:66114576-66115784	Raji	blood:	n/a	n/a
22	UBTF	chr11:66114879-66114994	K562	blood:	n/a	n/a
23	POLR2A	chr11:66114887-66115135	HepG2	liver:	n/a	n/a
24	ZBTB7A	chr11:66114643-66115404	K562	blood:	n/a	chr11:66115214-66115223
25	CREB1	chr11:66114468-66116106	HepG2	liver:	n/a	n/a
26	REST	chr11:66114332-66116160	H1-neurons	neurons:	n/a	chr11:66115338-66115351 chr11:66115196-66115206
27	POLR2A	chr11:66114816-66115140	HepG2	liver:	n/a	n/a
28	GTF2F1	chr11:66114896-66115017	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr11:66114681-66115029	GM12878	blood:	n/a	n/a
30	ZBTB7A	chr11:66114431-66115237	ECC-1	luminal epithelium:	n/a	chr11:66115214-66115223
31	POLR2A	chr11:66114847-66115084	H1-hESC	embryonic stem cell:	n/a	n/a
32	HCFC1	chr11:66114687-66116175	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:66114872-66115134	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:66114865-66115717	A549	lung:	n/a	n/a
35	MAX	chr11:66114512-66115083	HepG2	liver:	n/a	n/a
36	MAX	chr11:66114350-66115141	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:66114893-66115128	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:66114321-66116968	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:66114879-66115815	MCF-7	breast:	n/a	n/a
40	HMGN3	chr11:66114721-66115504	K562	blood:	n/a	n/a
41	POLR2A	chr11:66114876-66115169	A549	lung:	n/a	n/a
42	POLR2A	chr11:66114879-66115566	NB4	blood:	n/a	n/a
43	MAX	chr11:66114256-66116047	A549	lung:	n/a	n/a
44	POLR2A	chr11:66114875-66114969	ProgFib	skin:	n/a	n/a
45	POLR2A	chr11:66114887-66115803	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr11:66114860-66115048	K562	blood:	n/a	n/a
47	TCF3	chr11:66114548-66115075	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:66113749-66116012	SK-N-MC	brain:	n/a	n/a
49	THAP1	chr11:66114741-66115070	K562	blood:	n/a	n/a
50	ZEB1	chr11:66114653-66114952	GM12878	blood:	n/a	chr11:66114686-66114698

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66033076..66035331-chr11:66114524..66116038,2	MCF-7	breast:
2	chr11:66055270..66057597-chr11:66112530..66115409,2	K562	blood:
3	chr11:66055638..66057992-chr11:66113909..66116651,3	K562	blood:
4	chr11:66035609..66037495-chr11:66113505..66115336,2	MCF-7	breast:
5	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
6	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
7	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
8	chr11:66078215..66080508-chr11:66113999..66115962,2	K562	blood:
9	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
10	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
11	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
12	chr10:123687517..123688377-chr11:66114730..66115723,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000255468	TF binding region
BRMS1	TF binding region
ENSG00000179292	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000107669	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000226864	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1190621	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1190622	0.83[EUR][1000 genomes]
rs1190623	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1212135	0.88[EUR][1000 genomes]
rs12364904	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2016960	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3016311	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3016316	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3016317	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814740	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4390351	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[TSI][hapmap]
rs56240803	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57004348	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58221849	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59651473	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73503311	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7938930	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7950463	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs948360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11537930	RP11-867G23.12	cis	Whole Blood	GTEx
rs11537930	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66111200-66115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:66112600-66115000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:66112600-66115000	Flanking Active TSS	Dnd41	blood
4	chr11:66112800-66115000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:66112800-66115000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:66112800-66115000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:66112800-66115000	Flanking Active TSS	Colonic Mucosa	Colon
8	chr11:66112800-66115000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:66112800-66115000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:66113400-66115000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:66113600-66115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:66113600-66115000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr11:66113600-66116000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:66113800-66115000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:66113800-66115000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:66113800-66115000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:66113800-66115000	Flanking Active TSS	Liver	Liver
18	chr11:66113800-66115000	Flanking Active TSS	HMEC	breast
19	chr11:66113800-66116200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:66114000-66115000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:66114000-66115000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr11:66114000-66115000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:66114000-66115000	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr11:66114000-66115000	Flanking Active TSS	NH-A	brain
25	chr11:66114000-66116000	Active TSS	Fetal Kidney	kidney
26	chr11:66114200-66115000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:66114200-66115000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr11:66114200-66115000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:66114200-66115000	Flanking Active TSS	Fetal Thymus	thymus
30	chr11:66114200-66115800	Active TSS	Brain Angular Gyrus	brain
31	chr11:66114200-66116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:66114200-66116000	Active TSS	Osteobl	bone
33	chr11:66114200-66116200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr11:66114400-66115000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:66114400-66115000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr11:66114400-66115000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr11:66114400-66115000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:66114400-66115000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:66114400-66115000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr11:66114400-66115000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:66114400-66115000	Flanking Active TSS	Hela-S3	cervix
42	chr11:66114400-66115000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr11:66114400-66115600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:66114400-66115600	Active TSS	Colon Smooth Muscle	Colon
45	chr11:66114400-66115600	Active TSS	Fetal Heart	heart
46	chr11:66114400-66115600	Active TSS	Stomach Mucosa	stomach
47	chr11:66114400-66115800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:66114400-66115800	Active TSS	Brain Anterior Caudate	brain
49	chr11:66114400-66115800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:66114400-66115800	Active TSS	Fetal Brain Female	brain

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