Variant report

Variant	rs867813
Chromosome Location	chr11:45939934-45939935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:45938963-45940020	K562	blood:	n/a	n/a
2	TBP	chr11:45939325-45940531	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:45938744-45940560	GM18505	blood:	n/a	n/a
4	SRF	chr11:45939135-45940498	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr11:45938817-45940635	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:45939170-45940530	K562	blood:	n/a	n/a
7	TAL1	chr11:45939380-45940539	K562	blood:	n/a	n/a
8	SIN3AK20	chr11:45939524-45939997	PANC-1	pancreas:	n/a	n/a
9	MAZ	chr11:45938891-45940622	IMR90	lung:	n/a	chr11:45940463-45940473
10	MXI1	chr11:45938952-45940757	Hela-S3	cervix:	n/a	n/a
11	EP300	chr11:45939076-45940401	ECC-1	luminal epithelium:	n/a	n/a
12	RCOR1	chr11:45939078-45940619	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr11:45939184-45939959	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr11:45939652-45940040	A549	lung:	n/a	n/a
15	RFX5	chr11:45939156-45940574	Hela-S3	cervix:	n/a	chr11:45939560-45939574 chr11:45940407-45940416 chr11:45939559-45939574 chr11:45939562-45939571
16	SMARCB1	chr11:45938835-45940506	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:45938856-45940548	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr11:45939113-45939935	SK-N-SH	brain:	n/a	n/a
19	YY1	chr11:45939351-45939942	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr11:45939148-45939972	HCT-116	colon:	n/a	n/a
21	TAF1	chr11:45939075-45939964	A549	lung:	n/a	n/a
22	SRF	chr11:45939329-45940111	ECC-1	luminal epithelium:	n/a	n/a
23	ZC3H11A	chr11:45939362-45939965	K562	blood:	n/a	n/a
24	POLR2A	chr11:45939933-45939947	MCF-7	breast:	n/a	n/a
25	JUND	chr11:45939281-45939960	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYBL2	chr11:45939907-45940401	HepG2	liver:	n/a	n/a
27	RELA	chr11:45939019-45939965	GM19099	blood:	n/a	chr11:45939109-45939118 chr11:45939109-45939118
28	IRF1	chr11:45939208-45940567	K562	blood:	n/a	chr11:45940424-45940438 chr11:45940408-45940417
29	CEBPB	chr11:45939067-45940153	HCT-116	colon:	n/a	n/a
30	SMARCC1	chr11:45938835-45940372	Hela-S3	cervix:	n/a	n/a
31	ARID3A	chr11:45939775-45940079	K562	blood:	n/a	n/a
32	POLR2A	chr11:45938928-45940693	HepG2	liver:	n/a	n/a
33	MAX	chr11:45939129-45940411	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:45938843-45940527	GM19193	blood:	n/a	n/a
35	MYC	chr11:45938931-45940498	K562	blood:	n/a	chr11:45940463-45940473
36	GABPA	chr11:45938867-45940012	SK-N-SH	brain:	n/a	chr11:45939688-45939702 chr11:45939690-45939699 chr11:45939685-45939699 chr11:45939688-45939699
37	CHD2	chr11:45939341-45940406	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr11:45939208-45940070	HepG2	liver:	n/a	n/a
39	MAZ	chr11:45939131-45940541	K562	blood:	n/a	chr11:45940463-45940473
40	SRF	chr11:45939494-45939961	K562	blood:	n/a	n/a
41	NR2F2	chr11:45938851-45940492	K562	blood:	n/a	chr11:45939230-45939245
42	CUX1	chr11:45939230-45940370	K562	blood:	n/a	n/a
43	GABPA	chr11:45938981-45939956	Hela-S3	cervix:	n/a	chr11:45939688-45939702 chr11:45939690-45939699 chr11:45939685-45939699 chr11:45939688-45939699
44	EP300	chr11:45939236-45940445	K562	blood:	n/a	n/a
45	POLR2A	chr11:45939228-45940600	HCT-116	colon:	n/a	n/a
46	BCLAF1	chr11:45939160-45940001	GM12878	blood:	n/a	n/a
47	GTF2F1	chr11:45939392-45939960	K562	blood:	n/a	n/a
48	POLR2A	chr11:45938813-45939952	K562	blood:	n/a	n/a
49	ZNF143	chr11:45939181-45940436	GM12878	blood:	n/a	n/a
50	USF2	chr11:45939330-45940111	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45939917-45939967	HCPEpiC	choroid plexus:	n/a
2	chr11:45939917-45939967	AG09309	skin:	n/a
3	chr11:45939917-45939967	HRPEpiC	eye:	n/a
4	chr11:45939917-45939967	MCF-7	breast:	n/a
5	chr11:45939917-45939967	K562	blood:	n/a
6	chr11:45939917-45939967	HAEpiC	amniotic membrane:	n/a
7	chr11:45939917-45939967	AG04450	lung:	fetal
8	chr11:45939917-45939967	HEK293	kidney:	embryo
9	chr11:45939917-45939967	HCM	heart:	n/a
10	chr11:45939917-45939967	HMEC	breast:	n/a
11	chr11:45939917-45939967	GM06990	blood:	n/a
12	chr11:45939917-45939967	Caco-2	colon:	n/a
13	chr11:45939917-45939967	NHBE	bronchial:	n/a
14	chr11:45939917-45939967	AG04449	skin:	fetal
15	chr11:45939917-45939967	HIPEpiC	eye:	n/a
16	chr11:45939917-45939967	Hepatocyte	liver:	n/a
17	chr11:45939917-45939967	GM12891	blood:	n/a
18	chr11:45939917-45939967	A549	lung:	n/a
19	chr11:45939917-45939967	T-47D	breast:	n/a
20	chr11:45939917-45939967	NHDF-neo	bronchial:	n/a
21	chr11:45939917-45939967	PANC-1	pancreas:	n/a
22	chr11:45939917-45939967	ECC-1	luminal epithelium:	n/a
23	chr11:45939917-45939967	SK-N-SH	brain:	n/a
24	chr11:45939917-45939967	SAEC	small airway:	n/a
25	chr11:45939917-45939967	HepG2	liver:	n/a
26	chr11:45939917-45939967	BE2_C	brain:	n/a
27	chr11:45939917-45939967	GM19239	blood:	n/a
28	chr11:45939917-45939967	CMK	blood:	n/a
29	chr11:45939917-45939967	RPTEC	kidney:	n/a
30	chr11:45939917-45939967	AoSMC	blood vessel:	n/a
31	chr11:45939917-45939967	GM12892	blood:	n/a
32	chr11:45939917-45939967	NH-A	brain:	n/a
33	chr11:45939917-45939967	HEEpiC	esophagus:	n/a
34	chr11:45939917-45939967	IMR90	lung:	fetal
35	chr11:45939917-45939967	ovcar-3	ovarian:	n/a
36	chr11:45939917-45939967	HCT-116	colon:	n/a
37	chr11:45939917-45939967	SK-N-MC	brain:	n/a
38	chr11:45939917-45939967	GM12878	blood:	n/a
39	chr11:45939917-45939967	Hela-S3	cervix:	n/a
40	chr11:45939917-45939967	NB4	blood:	n/a
41	chr11:45939917-45939967	BJ	skin:	n/a
42	chr11:45939917-45939967	LNCaP	prostate:	n/a
43	chr11:45939917-45939967	AG10803	skin:	n/a
44	chr11:45939917-45939967	HRE	kidney:	n/a
45	chr11:45939917-45939967	HCF	heart:	n/a
46	chr11:45939917-45939967	NT2-D1	testis:	n/a
47	chr11:45939917-45939967	U87	brain:	n/a
48	chr11:45939917-45939967	PrEC	prostate:	n/a
49	chr11:45939917-45939967	Jurkat	blood:	n/a
50	chr11:45939917-45939967	ProgFib	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45824638..45826704-chr11:45938955..45940480,2	MCF-7	breast:
2	chr11:45938612..45941036-chr11:46368136..46369719,2	K562	blood:
3	chr11:45939411..45941074-chr11:46142423..46143961,2	MCF-7	breast:
4	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
5	chr11:45937934..45940310-chr17:56708373..56710113,2	MCF-7	breast:
6	chr11:45904585..45907305-chr11:45939491..45941669,2	K562	blood:
7	chr11:45868914..45870628-chr11:45938803..45941080,3	MCF-7	breast:

No data

Variant related genes	Relation type
GYLTL1B	TF binding region
PEX16	TF binding region
PEX16	CpG island
GYLTL1B	CpG island
ENSG00000181830	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000121653	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838530	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10838531	0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038706	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1132349	0.99[ASN][1000 genomes]
rs11600112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2271847	0.92[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2280331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3802758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7109981	0.96[ASN][1000 genomes]
rs7115790	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7124323	0.86[ASN][1000 genomes]
rs7124434	0.88[ASN][1000 genomes]
rs7925824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs939108	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr11:45938200-45940600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:45938400-45940600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:45938400-45940600	Active TSS	A549	lung
4	chr11:45938600-45940400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:45938600-45940400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:45938600-45940400	Active TSS	Aorta	Aorta
7	chr11:45938600-45940400	Active TSS	Small Intestine	intestine
8	chr11:45938600-45940400	Active TSS	HSMMtube	muscle
9	chr11:45938600-45940600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:45938800-45940000	Active TSS	GM12878-XiMat	blood
11	chr11:45938800-45940200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:45938800-45940400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:45938800-45940400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:45938800-45940400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:45938800-45940400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:45938800-45940400	Active TSS	Gastric	stomach
17	chr11:45938800-45940400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr11:45938800-45940400	Active TSS	NHDF-Ad	bronchial
19	chr11:45938800-45940600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:45938800-45940600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:45938800-45940600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:45938800-45940600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:45938800-45940600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:45938800-45940600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:45938800-45940600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:45938800-45940600	Active TSS	Fetal Intestine Large	intestine
27	chr11:45938800-45940600	Active TSS	Fetal Intestine Small	intestine
28	chr11:45938800-45940600	Active TSS	Fetal Kidney	kidney
29	chr11:45938800-45940600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:45938800-45940600	Active TSS	Ovary	ovary
31	chr11:45938800-45940600	Active TSS	HSMM	muscle
32	chr11:45938800-45940600	Active TSS	K562	blood
33	chr11:45938800-45940600	Active TSS	NHLF	lung
34	chr11:45939000-45940000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:45939000-45940000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:45939000-45940200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:45939000-45940200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:45939000-45940200	Active TSS	Brain Anterior Caudate	brain
39	chr11:45939000-45940200	Active TSS	Right Ventricle	heart
40	chr11:45939000-45940200	Active TSS	Thymus	Thymus
41	chr11:45939000-45940200	Bivalent/Poised TSS	HepG2	liver
42	chr11:45939000-45940400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:45939000-45940400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:45939000-45940400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:45939000-45940400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:45939000-45940400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:45939000-45940400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:45939000-45940400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:45939000-45940400	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:45939000-45940400	Active TSS	Esophagus	oesophagus

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