Variant report

Variant	rs67532818
Chromosome Location	chr7:100317808-100317809
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100317591-100317986	A549	lung:	n/a	n/a
2	CTCF	chr7:100317680-100317830	HA-sp	spinal cord:	n/a	n/a
3	CTCF	chr7:100317740-100317890	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr7:100317760-100317910	BE2_C	brain:	n/a	n/a
5	CTCF	chr7:100317720-100317870	NB4	blood:	n/a	n/a
6	RAD21	chr7:100317509-100318028	A549	lung:	n/a	n/a
7	CTCF	chr7:100317631-100317828	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:100317622-100317841	Fibrobl	skin:	n/a	n/a
9	CTCF	chr7:100317607-100317948	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:100317740-100317890	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr7:100317680-100317830	HRE	kidney:	n/a	n/a
12	SMC3	chr7:100317595-100317858	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr7:100317700-100317850	HFF-Myc	foreskin:	n/a	n/a
14	RAD21	chr7:100317505-100317953	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:100317680-100317830	BJ	skin:	n/a	n/a
16	CTCF	chr7:100317740-100317890	AG10803	skin:	n/a	n/a
17	CTCF	chr7:100317720-100317870	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr7:100317680-100317830	AG04450	lung:	n/a	n/a
19	CTCF	chr7:100317740-100317890	NHDF-neo	bronchial:	n/a	n/a
20	SMC3	chr7:100317168-100318210	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr7:100317623-100317829	A549	lung:	n/a	n/a
22	RAD21	chr7:100317585-100317881	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr7:100317617-100317878	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr7:100317680-100317830	A549	lung:	n/a	n/a
25	CTCF	chr7:100317720-100317870	HAc	cerebellar:	n/a	n/a
26	CTCF	chr7:100317660-100317810	HVMF	connective:	n/a	n/a
27	CTCF	chr7:100317660-100317810	HMF	breast:	n/a	n/a
28	RAD21	chr7:100317486-100318022	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:100317720-100317870	HMF	breast:	n/a	n/a
30	CTCF	chr7:100317617-100317938	A549	lung:	n/a	n/a
31	RAD21	chr7:100317542-100317985	HepG2	liver:	n/a	n/a
32	CTCF	chr7:100317760-100317910	HFF	foreskin:	n/a	n/a
33	CTCF	chr7:100317740-100317890	AG09319	gingival:	n/a	n/a
34	CTCF	chr7:100317627-100317837	ProgFib	skin:	n/a	n/a
35	CTCF	chr7:100317740-100317890	NHEK	skin:	n/a	n/a
36	CTCF	chr7:100317625-100317834	Gliobla	brain:	n/a	n/a
37	CTCF	chr7:100317740-100317890	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr7:100317740-100317890	WI-38	lung:	n/a	n/a
39	CTCF	chr7:100317625-100317855	MCF-7	breast:	n/a	n/a
40	ZNF384	chr7:100317666-100317910	K562	blood:	n/a	n/a
41	CTCF	chr7:100317680-100317830	HUVEC	blood vessel:	n/a	n/a
42	RAD21	chr7:100317595-100317977	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr7:100317740-100317890	HCM	heart:	n/a	n/a
44	CTCF	chr7:100317700-100317850	HAc	cerebellar:	n/a	n/a
45	CTCF	chr7:100317653-100317837	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:100317627-100317853	A549	lung:	n/a	n/a
47	CTCF	chr7:100317660-100317810	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr7:100317660-100317810	HCFaa	heart:	n/a	n/a
49	CTCF	chr7:100317660-100317810	AG09319	gingival:	n/a	n/a
50	CTCF	chr7:100317700-100317850	NHLF	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100315279..100318194-chr7:100320126..100322658,3	K562	blood:
2	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
3	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
4	chr7:100302553..100308135-chr7:100314195..100322207,16	MCF-7	breast:
5	chr7:100302051..100306591-chr7:100312993..100321692,11	MCF-7	breast:
6	chr7:100314177..100318194-chr7:100318771..100321626,3	K562	blood:
7	chr7:100315257..100318069-chr7:100320272..100323098,2	MCF-7	breast:
8	chr7:100317313..100318403-chr7:100449405..100450273,4	MCF-7	breast:

No data

Variant related genes	Relation type
EPO	TF binding region
ENSG00000196411	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv3410635	chr7:100317416-100319614	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1212578	chr7:100317807-100317808	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100305000-100318000	Weak transcription	Right Atrium	heart
2	chr7:100305200-100318400	Weak transcription	Gastric	stomach
3	chr7:100316600-100318400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:100316600-100318400	Enhancers	Liver	Liver
5	chr7:100316800-100318200	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr7:100317000-100318000	Flanking Active TSS	HepG2	liver
7	chr7:100317200-100319400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr7:100317400-100318000	Bivalent Enhancer	Placenta	Placenta
9	chr7:100317400-100318200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
10	chr7:100317400-100318800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:100317600-100319400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
14	chr7:100317800-100318000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr7:100317800-100318000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:100317800-100318000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr7:100317800-100318000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr7:100317800-100318000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:100317800-100318000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:100317800-100318000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr7:100317800-100318000	Enhancers	Esophagus	oesophagus
23	chr7:100317800-100318000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
25	chr7:100317800-100318000	Active TSS	A549	lung
26	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	HSMM	muscle
27	chr7:100317800-100318000	Bivalent Enhancer	NH-A	brain
28	chr7:100317800-100318000	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr7:100317800-100318000	Bivalent Enhancer	Osteobl	bone
30	chr7:100317800-100318200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:100317800-100318200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:100317800-100318200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:100317800-100318200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:100317800-100318200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:100317800-100318200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:100317800-100318200	Bivalent Enhancer	Fetal Lung	lung
37	chr7:100317800-100318200	Bivalent/Poised TSS	NHDF-Ad	bronchial
38	chr7:100317800-100318600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:100317800-100318600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:100317800-100318600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:100317800-100318600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:100317800-100318600	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr7:100317800-100318800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:100317800-100318800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:100317800-100318800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:100317800-100318800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:100317800-100318800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:100317800-100318800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:100317800-100318800	Bivalent Enhancer	Fetal Heart	heart
50	chr7:100317800-100319000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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