Variant report

Variant	rs7933751
Chromosome Location	chr11:100557692-100557693
allele	C/G
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	UBTF	chr11:100557668-100558873	K562	blood:	n/a	n/a
2	POLR2A	chr11:100557644-100558480	A549	lung:	n/a	n/a
3	CTCF	chr11:100557640-100557790	BJ	skin:	n/a	n/a
4	MAX	chr11:100557648-100558999	HCT-116	colon:	n/a	n/a
5	ZNF263	chr11:100557279-100558877	HEK293-T-REx	kidney:	n/a	chr11:100558219-100558228
6	POLR2A	chr11:100557227-100558736	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr11:100557688-100558771	GM12878	blood:	n/a	n/a
8	EGR1	chr11:100557491-100559434	HCT-116	colon:	n/a	chr11:100558120-100558133 chr11:100558121-100558132 chr11:100558121-100558130 chr11:100559151-100559162 chr11:100558117-100558131 chr11:100558120-100558133 chr11:100558121-100558131 chr11:100558059-100558068 chr11:100558119-100558133 chr11:100557788-100557797 chr11:100558120-100558133 chr11:100558196-100558205 chr11:100557640-100557655 chr11:100558120-100558130
9	POLR2A	chr11:100557626-100558825	HepG2	liver:	n/a	n/a
10	NRF1	chr11:100557656-100558262	H1-hESC	embryonic stem cell:	n/a	chr11:100558188-100558197 chr11:100558195-100558206 chr11:100557787-100557798 chr11:100558192-100558206
11	BACH1	chr11:100557257-100558831	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF7	chr11:100557657-100558222	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:100557614-100557837	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr11:100557609-100558410	HepG2	liver:	n/a	n/a
15	MAZ	chr11:100557594-100558272	K562	blood:	n/a	n/a
16	MAX	chr11:100557670-100558429	HCT-116	colon:	n/a	n/a
17	MAX	chr11:100557643-100558373	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:100557265-100558827	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:100557298-100558225	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3A	chr11:100557197-100559182	H1-hESC	embryonic stem cell:	n/a	chr11:100557995-100558006 chr11:100557801-100557812
21	WRNIP1	chr11:100557570-100558183	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:100557619-100558264	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:100557660-100557810	GM12866	blood:	n/a	n/a
24	POLR2A	chr11:100557624-100558792	GM19193	blood:	n/a	n/a
25	POLR2A	chr11:100557044-100558940	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr11:100557634-100558328	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:100557671-100558825	PFSK-1	brain:	n/a	n/a
28	MXI1	chr11:100557673-100558274	HepG2	liver:	n/a	n/a
29	JUND	chr11:100557211-100558185	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr11:100557662-100558268	GM12878	blood:	n/a	n/a
31	TAF1	chr11:100557304-100558833	H1-hESC	embryonic stem cell:	n/a	n/a
32	NRF1	chr11:100557606-100558349	GM12878	blood:	n/a	chr11:100558188-100558197 chr11:100558195-100558206 chr11:100557787-100557798 chr11:100558192-100558206
33	CTCF	chr11:100557660-100557810	HMEC	breast:	n/a	n/a
34	TBP	chr11:100557196-100558787	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ARHGAP42	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10160451	0.90[ASN][1000 genomes]
rs11224377	0.89[AFR][1000 genomes]
rs11224380	0.93[AFR][1000 genomes]
rs11224387	0.93[AFR][1000 genomes]
rs6590809	1.00[ASN][1000 genomes]
rs7130376	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7951366	0.85[ASN][1000 genomes]
rs7951626	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100556600-100558000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:100557000-100560000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:100557200-100559000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:100557200-100559600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:100557200-100559600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:100557200-100559600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:100557200-100559600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:100557200-100559800	Active TSS	Fetal Kidney	kidney
9	chr11:100557200-100560600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:100557400-100557800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:100557400-100557800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:100557400-100557800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:100557400-100557800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:100557400-100557800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr11:100557400-100557800	Flanking Active TSS	Fetal Heart	heart
16	chr11:100557400-100557800	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr11:100557400-100557800	Flanking Active TSS	Placenta	Placenta
18	chr11:100557400-100557800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
19	chr11:100557400-100557800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:100557400-100557800	Flanking Active TSS	Dnd41	blood
21	chr11:100557400-100557800	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr11:100557400-100558600	Active TSS	Primary T cells from cord blood	blood
23	chr11:100557400-100558800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:100557400-100558800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:100557400-100558800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:100557400-100558800	Active TSS	Osteobl	bone
27	chr11:100557400-100559000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:100557400-100559000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:100557400-100559000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:100557400-100559000	Active TSS	Brain Cingulate Gyrus	brain
31	chr11:100557400-100559000	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:100557400-100559000	Active TSS	Hela-S3	cervix
33	chr11:100557400-100559200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:100557400-100559200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:100557400-100559200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:100557400-100559400	Active TSS	Fetal Intestine Large	intestine
37	chr11:100557400-100559600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:100557400-100559600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:100557400-100559600	Active TSS	Duodenum Mucosa	Duodenum
40	chr11:100557400-100559800	Active TSS	HSMM	muscle
41	chr11:100557400-100560200	Active TSS	Brain Anterior Caudate	brain
42	chr11:100557400-100560200	Active TSS	Right Atrium	heart
43	chr11:100557400-100560600	Active TSS	Fetal Muscle Trunk	muscle
44	chr11:100557400-100561000	Active TSS	HSMMtube	muscle
45	chr11:100557600-100557800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:100557600-100557800	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr11:100557600-100557800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:100557600-100557800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:100557600-100557800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:100557600-100557800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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