Variant report

Variant	rs148213164
Chromosome Location	chr9:7592872-7592873
allele	A/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	CTCF	chr9:7592780-7592930	HEEpiC	esophagus:	n/a	chr9:7592820-7592828
2	CTCF	chr9:7592760-7592910	GM12864	blood:	n/a	chr9:7592820-7592828
3	RAD21	chr9:7592566-7593429	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:7592676-7593021	GM12878	blood:	n/a	chr9:7592820-7592828
5	CTCF	chr9:7592740-7592890	GM12868	blood:	n/a	chr9:7592820-7592828
6	CTCF	chr9:7592760-7592910	MCF-7	breast:	n/a	chr9:7592820-7592828
7	CTCF	chr9:7592760-7592910	HEK293	kidney:	n/a	chr9:7592820-7592828
8	CTCF	chr9:7592760-7592910	GM12873	blood:	n/a	chr9:7592820-7592828
9	CTCF	chr9:7592820-7592970	HAc	cerebellar:	n/a	chr9:7592820-7592828
10	CTCF	chr9:7592800-7592950	GM12875	blood:	n/a	chr9:7592820-7592828
11	CTCF	chr9:7592800-7592950	MCF-7	breast:	n/a	chr9:7592820-7592828
12	CTCF	chr9:7592800-7593070	GM12871	blood:	n/a	chr9:7592820-7592828
13	CTCF	chr9:7592780-7592930	AG04450	lung:	n/a	chr9:7592820-7592828
14	ZNF143	chr9:7592683-7592957	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:7592820-7592970	GM12873	blood:	n/a	chr9:7592820-7592828
16	CTCF	chr9:7592780-7592930	NHEK	skin:	n/a	chr9:7592820-7592828
17	CTCF	chr9:7592740-7592890	HCFaa	heart:	n/a	chr9:7592820-7592828
18	CTCF	chr9:7592740-7592890	SAEC	small airway:	n/a	chr9:7592820-7592828
19	ZNF274	chr9:7592652-7593218	NT2-D1	testis:	n/a	n/a
20	CTCF	chr9:7592780-7592930	HRPEpiC	eye:	n/a	chr9:7592820-7592828
21	CTCF	chr9:7592760-7592910	WERI-Rb-1	eye:	n/a	chr9:7592820-7592828
22	CTCF	chr9:7592780-7592930	HPF	lung:	n/a	chr9:7592820-7592828
23	CTCF	chr9:7592760-7592910	HRPEpiC	eye:	n/a	chr9:7592820-7592828
24	CTCF	chr9:7592760-7592910	SK-N-SH_RA	brain:	n/a	chr9:7592820-7592828
25	CTCF	chr9:7592800-7592950	SK-N-SH_RA	brain:	n/a	chr9:7592820-7592828
26	RAD21	chr9:7592667-7592926	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr9:7592648-7593010	H1-hESC	embryonic stem cell:	n/a	chr9:7592820-7592828
28	CTCF	chr9:7592780-7592930	HEK293	kidney:	n/a	chr9:7592820-7592828
29	RAD21	chr9:7592822-7592928	HepG2	liver:	n/a	n/a
30	RAD21	chr9:7592680-7593357	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:7592807-7592875	HepG2	liver:	n/a	chr9:7592820-7592828
32	CTCF	chr9:7592820-7592970	HFF-Myc	foreskin:	n/a	chr9:7592820-7592828
33	CTCF	chr9:7592804-7592901	Spleen_OC	spleen:	n/a	chr9:7592820-7592828
34	CTCF	chr9:7592760-7592910	HEEpiC	esophagus:	n/a	chr9:7592820-7592828
35	CTCF	chr9:7592788-7592908	HUVEC	blood vessel:	n/a	chr9:7592820-7592828
36	CTCF	chr9:7592760-7592910	AoAF	blood vessel:	n/a	chr9:7592820-7592828
37	CTCF	chr9:7592760-7592910	NHDF-neo	bronchial:	n/a	chr9:7592820-7592828
38	CTCF	chr9:7592760-7592910	HBMEC	blood vessel:	n/a	chr9:7592820-7592828
39	CTCF	chr9:7592825-7592906	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr9:7592860-7593010	GM06990	blood:	n/a	n/a
41	RAD21	chr9:7592726-7592937	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr9:7592820-7592970	HMF	breast:	n/a	chr9:7592820-7592828
43	CTCF	chr9:7592740-7592890	HBMEC	blood vessel:	n/a	chr9:7592820-7592828
44	CTCF	chr9:7592820-7592970	HUVEC	blood vessel:	n/a	chr9:7592820-7592828
45	CTCF	chr9:7592740-7592890	BE2_C	brain:	n/a	chr9:7592820-7592828
46	CTCF	chr9:7592780-7592930	Caco-2	colon:	n/a	chr9:7592820-7592828
47	CTCF	chr9:7592760-7592910	A549	lung:	n/a	chr9:7592820-7592828
48	CTCF	chr9:7592760-7592910	GM12872	blood:	n/a	chr9:7592820-7592828
49	CTCF	chr9:7592800-7592950	HA-sp	spinal cord:	n/a	chr9:7592820-7592828
50	CTCF	chr9:7592760-7592910	HCT-116	colon:	n/a	chr9:7592820-7592828

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7592774..7593282-chr9:7827299..7827877,2	MCF-7	breast:
2	chr9:7592716..7593255-chr9:7844122..7844707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178654	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34566	chr9:7291742-7781370	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv818681	chr9:7292836-7781365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv831502	chr9:7428505-7599941	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1029032	chr9:7431547-7764888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv429985	chr9:7520274-7619121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429988	chr9:7522659-7595558	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv429987	chr9:7522659-7619121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1028504	chr9:7523311-7682789	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv539978	chr9:7523311-7682789	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv892201	chr9:7524075-7742476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1015795	chr9:7540787-7701648	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv892204	chr9:7582234-7626045	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv892205	chr9:7582673-7625060	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv613266	chr9:7588854-7901308	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv972294	chr9:7592837-7603037	Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7592400-7593000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:7592400-7593200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:7592600-7593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:7592600-7593200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:7592600-7593200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:7592800-7593200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:7592800-7593200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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