Variant report

Variant	rs567075700
Chromosome Location	chr11:73053858-73053859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:73053796-73054105	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr11:73053801-73054101	H1-hESC	embryonic stem cell:	n/a	chr11:73053943-73053952
3	MAX	chr11:73053651-73054481	H1-hESC	embryonic stem cell:	n/a	chr11:73053846-73053855
4	MXI1	chr11:73053271-73056008	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:73053840-73053990	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr11:73053820-73053970	SAEC	small airway:	n/a	n/a
7	MYC	chr11:73053625-73053890	MCF-7	breast:	n/a	chr11:73053846-73053855
8	ZNF263	chr11:73052807-73053986	HEK293-T-REx	kidney:	n/a	chr11:73053924-73053933 chr11:73053401-73053410

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73053830-73053880	U87	brain:	n/a
2	chr11:73053830-73053880	HL-60	blood:	n/a
3	chr11:73053830-73053880	NHBE	bronchial:	n/a
4	chr11:73053830-73053880	RPTEC	kidney:	n/a
5	chr11:73053830-73053880	HRCEpiC	kidney:	n/a
6	chr11:73053830-73053880	HEEpiC	esophagus:	n/a
7	chr11:73053830-73053880	GM12891	blood:	n/a
8	chr11:73053830-73053880	HCT-116	colon:	n/a
9	chr11:73053830-73053880	Hepatocyte	liver:	n/a
10	chr11:73053830-73053880	NHDF-neo	bronchial:	n/a
11	chr11:73053830-73053880	NT2-D1	testis:	n/a
12	chr11:73053830-73053880	PrEC	prostate:	n/a
13	chr11:73053830-73053880	GM06990	blood:	n/a
14	chr11:73053830-73053880	SK-N-SH_RA	brain:	n/a
15	chr11:73053830-73053880	SK-N-MC	brain:	n/a
16	chr11:73053830-73053880	PANC-1	pancreas:	n/a
17	chr11:73053830-73053880	A549	lung:	n/a
18	chr11:73053830-73053880	HEK293	kidney:	embryo
19	chr11:73053830-73053880	K562	blood:	n/a
20	chr11:73053830-73053880	HCF	heart:	n/a
21	chr11:73053830-73053880	MCF-7	breast:	n/a
22	chr11:73053830-73053880	HMEC	breast:	n/a
23	chr11:73053830-73053880	SKMC	muscle:	n/a
24	chr11:73053830-73053880	AoSMC	blood vessel:	n/a
25	chr11:73053830-73053880	MCF10A-Er-Src	breast:	n/a
26	chr11:73053830-73053880	AG09319	gingival:	n/a
27	chr11:73053830-73053880	HepG2	liver:	n/a
28	chr11:73053830-73053880	GM19239	blood:	n/a
29	chr11:73053830-73053880	HUVEC	blood vessel:	n/a
30	chr11:73053830-73053880	AG09309	skin:	n/a
31	chr11:73053830-73053880	LNCaP	prostate:	n/a
32	chr11:73053830-73053880	GM12892	blood:	n/a
33	chr11:73053830-73053880	GM12878	blood:	n/a
34	chr11:73053830-73053880	HNPCEpiC	eye:	n/a
35	chr11:73053830-73053880	PFSK-1	brain:	n/a
36	chr11:73053830-73053880	NH-A	brain:	n/a
37	chr11:73053830-73053880	CMK	blood:	n/a
38	chr11:73053830-73053880	NB4	blood:	n/a
39	chr11:73053830-73053880	HIPEpiC	eye:	n/a
40	chr11:73053830-73053880	H1-hESC	embryonic stem cell:	embryo
41	chr11:73053830-73053880	SAEC	small airway:	n/a
42	chr11:73053830-73053880	HCM	heart:	n/a
43	chr11:73053830-73053880	AG10803	skin:	n/a
44	chr11:73053830-73053880	Caco-2	colon:	n/a
45	chr11:73053830-73053880	BJ	skin:	n/a
46	chr11:73053830-73053880	HRPEpiC	eye:	n/a
47	chr11:73053830-73053880	T-47D	breast:	n/a
48	chr11:73053830-73053880	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:73053830-73053880	SK-N-SH	brain:	n/a
50	chr11:73053830-73053880	ovcar-3	ovarian:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
2	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
3	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF17	TF binding region
ARHGEF17	CpG island
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3341893	chr11:73052929-73055477	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73051400-73055400	Weak transcription	HMEC	breast
10	chr11:73052000-73054200	Weak transcription	Placenta	Placenta
11	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:73052600-73054200	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:73052600-73056000	Enhancers	Fetal Heart	heart
14	chr11:73052800-73054800	Enhancers	Liver	Liver
15	chr11:73052800-73056200	Enhancers	Lung	lung
16	chr11:73053000-73054200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:73053000-73055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:73053200-73054000	Enhancers	HSMM	muscle
19	chr11:73053200-73054200	Genic enhancers	Osteobl	bone
20	chr11:73053200-73056200	Enhancers	NHDF-Ad	bronchial
21	chr11:73053200-73056800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:73053400-73054000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr11:73053400-73054000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:73053400-73054000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:73053400-73054000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:73053400-73054400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:73053400-73054400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:73053400-73054400	Enhancers	Fetal Brain Male	brain
29	chr11:73053400-73054600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:73053400-73055000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:73053400-73055000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:73053400-73055000	Enhancers	Esophagus	oesophagus
33	chr11:73053400-73055800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:73053400-73055800	Enhancers	Brain Substantia Nigra	brain
35	chr11:73053400-73055800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:73053400-73057200	Enhancers	Spleen	Spleen
37	chr11:73053600-73054000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:73053600-73054000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:73053600-73054400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:73053600-73054400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:73053600-73054400	Active TSS	Aorta	Aorta
42	chr11:73053600-73054400	Active TSS	Colon Smooth Muscle	Colon
43	chr11:73053600-73054400	Flanking Active TSS	Left Ventricle	heart
44	chr11:73053600-73054400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:73053600-73054600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:73053600-73054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:73053600-73054600	Active TSS	Fetal Brain Female	brain
48	chr11:73053600-73054600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:73053600-73055800	Enhancers	NH-A	brain
50	chr11:73053600-73056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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