Variant report

Variant	rs57663127
Chromosome Location	chr11:107993308-107993309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:107992950-107993480	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:107991854-107993546	HepG2	liver:	n/a	n/a
3	MXI1	chr11:107991797-107993438	IMR90	lung:	n/a	n/a
4	MYC	chr11:107992095-107993347	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:107991897-107993403	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:107991834-107993476	GM12891	blood:	n/a	n/a
7	MYC	chr11:107991969-107993312	K562	blood:	n/a	n/a
8	MAX	chr11:107991953-107993474	NB4	blood:	n/a	n/a
9	HEY1	chr11:107992828-107993335	K562	blood:	n/a	n/a
10	ZNF263	chr11:107992031-107993422	HEK293-T-REx	kidney:	n/a	chr11:107992279-107992288
11	GTF2F1	chr11:107992575-107993491	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:107992884-107993464	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:107991946-107993506	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:107992008-107993693	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:107992923-107993400	K562	blood:	n/a	n/a
16	MXI1	chr11:107991458-107993648	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:107991762-107993504	PBDE	blood:	n/a	n/a
18	TBP	chr11:107991911-107993360	K562	blood:	n/a	n/a
19	KAP1	chr11:107991971-107993506	U2OS	brain:	n/a	n/a
20	USF2	chr11:107992473-107993320	Hela-S3	cervix:	n/a	n/a
21	GATA1	chr11:107991666-107993369	PBDE	blood:	n/a	n/a
22	POLR2A	chr11:107992046-107993648	K562	blood:	n/a	n/a
23	KAP1	chr11:107991967-107993510	HEK293	kidney:	n/a	n/a
24	POLR2A	chr11:107993224-107993344	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:107991953-107993388	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr11:107991685-107993557	K562	blood:	n/a	n/a
27	WRNIP1	chr11:107991940-107993361	GM12878	blood:	n/a	n/a
28	MYC	chr11:107991873-107993312	K562	blood:	n/a	n/a
29	MAX	chr11:107991992-107993438	Hela-S3	cervix:	n/a	n/a
30	MYC	chr11:107991936-107993493	NB4	blood:	n/a	n/a
31	UBTF	chr11:107991938-107993473	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107993298-107993348	AG09309	skin:	n/a
2	chr11:107993298-107993348	MCF-7	breast:	n/a
3	chr11:107993298-107993348	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:107993298-107993348	AG04449	skin:	fetal
5	chr11:107993298-107993348	AG09319	gingival:	n/a
6	chr11:107993298-107993348	HCF	heart:	n/a
7	chr11:107993298-107993348	HepG2	liver:	n/a
8	chr11:107993298-107993348	SKMC	muscle:	n/a
9	chr11:107993298-107993348	ProgFib	skin:	n/a
10	chr11:107993298-107993348	HRPEpiC	eye:	n/a
11	chr11:107993298-107993348	SK-N-SH_RA	brain:	n/a
12	chr11:107993298-107993348	HRCEpiC	kidney:	n/a
13	chr11:107993298-107993348	A549	lung:	n/a
14	chr11:107993298-107993348	H1-hESC	embryonic stem cell:	embryo
15	chr11:107993298-107993348	PANC-1	pancreas:	n/a
16	chr11:107993298-107993348	IMR90	lung:	fetal
17	chr11:107993298-107993348	Caco-2	colon:	n/a
18	chr11:107993298-107993348	GM12878	blood:	n/a
19	chr11:107993298-107993348	GM12891	blood:	n/a
20	chr11:107993298-107993348	U87	brain:	n/a
21	chr11:107993298-107993348	AG10803	skin:	n/a
22	chr11:107993298-107993348	NH-A	brain:	n/a
23	chr11:107993298-107993348	CMK	blood:	n/a
24	chr11:107993298-107993348	Hela-S3	cervix:	n/a
25	chr11:107993298-107993348	T-47D	breast:	n/a
26	chr11:107993298-107993348	BE2_C	brain:	n/a
27	chr11:107993298-107993348	SAEC	small airway:	n/a
28	chr11:107993298-107993348	SK-N-SH	brain:	n/a
29	chr11:107993298-107993348	GM19239	blood:	n/a
30	chr11:107993298-107993348	NB4	blood:	n/a
31	chr11:107993298-107993348	K562	blood:	n/a
32	chr11:107993298-107993348	NHDF-neo	bronchial:	n/a
33	chr11:107993298-107993348	SK-N-MC	brain:	n/a
34	chr11:107993298-107993348	HCT-116	colon:	n/a
35	chr11:107993298-107993348	HL-60	blood:	n/a
36	chr11:107993298-107993348	PFSK-1	brain:	n/a
37	chr11:107993298-107993348	GM12892	blood:	n/a
38	chr11:107993298-107993348	RPTEC	kidney:	n/a
39	chr11:107993298-107993348	AoSMC	blood vessel:	n/a
40	chr11:107993298-107993348	PrEC	prostate:	n/a
41	chr11:107993298-107993348	HAEpiC	amniotic membrane:	n/a
42	chr11:107993298-107993348	Hepatocyte	liver:	n/a
43	chr11:107993298-107993348	HIPEpiC	eye:	n/a
44	chr11:107993298-107993348	MCF10A-Er-Src	breast:	n/a
45	chr11:107993298-107993348	HCPEpiC	choroid plexus:	n/a
46	chr11:107993298-107993348	HUVEC	blood vessel:	n/a
47	chr11:107993298-107993348	Jurkat	blood:	n/a
48	chr11:107993298-107993348	LNCaP	prostate:	n/a
49	chr11:107993298-107993348	ovcar-3	ovarian:	n/a
50	chr11:107993298-107993348	HRE	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:107879008..107882104-chr11:107991227..107994837,4	K562	blood:
2	chr11:107992260..107994270-chr11:108463431..108465424,2	K562	blood:
3	chr11:107879008..107882817-chr11:107991227..107994837,4	K562	blood:
4	chr11:107992282..107994125-chr11:108092449..108094486,3	K562	blood:
5	chr11:107992936..107994517-chr11:108041386..108043018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255467	TF binding region
ENSG00000255467	CpG island
ENSG00000166266	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000149308	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10160256	1.00[AMR][1000 genomes]
rs10160616	1.00[AMR][1000 genomes]
rs11212521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212550	1.00[AMR][1000 genomes]
rs11212556	1.00[AMR][1000 genomes]
rs11821820	1.00[AMR][1000 genomes]
rs11827088	1.00[AMR][1000 genomes]
rs11827378	1.00[AMR][1000 genomes]
rs11827907	1.00[AMR][1000 genomes]
rs12270077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271846	1.00[AMR][1000 genomes]
rs12272177	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282185	1.00[AMR][1000 genomes]
rs3092853	1.00[AMR][1000 genomes]
rs35095430	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107991600-107993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:107991800-107993400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:107991800-107993400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:107991800-107993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:107991800-107993400	Active TSS	Fetal Muscle Trunk	muscle
6	chr11:107991800-107993600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:107991800-107994400	Active TSS	Right Atrium	heart
8	chr11:107991800-107995200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:107992000-107993400	Active TSS	Esophagus	oesophagus
10	chr11:107992000-107993400	Active TSS	A549	lung
11	chr11:107992000-107993600	Active TSS	Left Ventricle	heart
12	chr11:107992000-107993800	Active TSS	Ovary	ovary
13	chr11:107992000-107993800	Active TSS	Right Ventricle	heart
14	chr11:107992000-107994000	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:107992000-107994200	Active TSS	Liver	Liver
16	chr11:107992200-107993400	Active TSS	Pancreas	Pancrea
17	chr11:107992200-107994000	Active TSS	Stomach Smooth Muscle	stomach
18	chr11:107992400-107993400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:107992600-107993400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:107992600-107993400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr11:107992600-107993400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:107992600-107993400	Flanking Active TSS	HUVEC	blood vessel
23	chr11:107992600-107993600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:107992800-107993400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:107992800-107993400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr11:107992800-107993400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:107992800-107993400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:107992800-107993400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:107992800-107993400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:107992800-107993400	Active TSS	Fetal Heart	heart
31	chr11:107992800-107993400	Flanking Active TSS	Stomach Mucosa	stomach
32	chr11:107992800-107993600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:107992800-107993600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:107992800-107993600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:107992800-107993600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:107992800-107993600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:107992800-107993600	Enhancers	Spleen	Spleen
38	chr11:107992800-107993600	Flanking Active TSS	Dnd41	blood
39	chr11:107992800-107993600	Flanking Active TSS	K562	blood
40	chr11:107992800-107993600	Flanking Active TSS	NHEK	skin
41	chr11:107992800-107993600	Flanking Active TSS	NHLF	lung
42	chr11:107992800-107993600	Flanking Active TSS	Osteobl	bone
43	chr11:107992800-107995200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:107993000-107993400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr11:107993000-107993400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr11:107993000-107993400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr11:107993000-107993400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:107993000-107993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:107993000-107993400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:107993000-107993400	Enhancers	Primary hematopoietic stem cells	blood

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