Variant report

Variant	rs570000236
Chromosome Location	chr9:71788519-71788520
allele	A/C
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	GATA3	chr9:71788068-71789581	SK-N-SH	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
2	POLR2A	chr9:71788363-71788810	HepG2	liver:	n/a	n/a
3	MAZ	chr9:71788237-71791062	IMR90	lung:	n/a	chr9:71788888-71788897
4	RUNX3	chr9:71788415-71790910	GM12878	blood:	n/a	chr9:71790163-71790172 chr9:71790163-71790172
5	GATA2	chr9:71788056-71788827	SH-SY5Y	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
6	POLR2A	chr9:71788279-71789665	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:71788443-71791432	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:71788402-71789859	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:71788399-71788868	U87	brain:	n/a	n/a
10	JUND	chr9:71788280-71789896	GM12878	blood:	n/a	n/a
11	HA-E2F1	chr9:71788409-71789760	MCF-7	breast:	n/a	chr9:71788804-71788818 chr9:71789001-71789011 chr9:71788801-71788815
12	POLR2A	chr9:71787068-71792412	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr9:71788468-71790847	GM12892	blood:	n/a	n/a
14	POLR2A	chr9:71787790-71792027	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr9:71788384-71788862	U87	brain:	n/a	n/a
16	PML	chr9:71788511-71791175	GM12878	blood:	n/a	n/a
17	CTBP2	chr9:71788494-71789597	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:71788514-71789605	HL-60	blood:	n/a	n/a
19	RUNX3	chr9:71788397-71790952	GM12878	blood:	n/a	chr9:71790163-71790172 chr9:71790163-71790172
20	EP300	chr9:71788472-71789434	ECC-1	luminal epithelium:	n/a	chr9:71789002-71789011
21	RAD21	chr9:71788484-71789245	IMR90	lung:	n/a	chr9:71788751-71788765
22	MAX	chr9:71788519-71790807	GM12878	blood:	n/a	chr9:71788888-71788897
23	MAX	chr9:71788481-71789739	K562	blood:	n/a	chr9:71788888-71788897
24	POLR2A	chr9:71788484-71788936	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr9:71788005-71791473	IMR90	lung:	n/a	n/a
26	MXI1	chr9:71788357-71792021	GM12878	blood:	n/a	n/a
27	MXI1	chr9:71788307-71790977	IMR90	lung:	n/a	n/a
28	POLR2A	chr9:71788402-71790415	HUVEC	blood vessel:	n/a	n/a
29	NFIC	chr9:71788056-71789015	SK-N-SH	brain:	n/a	chr9:71788437-71788453 chr9:71788436-71788453
30	MXI1	chr9:71787907-71790914	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr9:71788486-71789793	HepG2	liver:	n/a	n/a
32	CHD1	chr9:71788496-71789115	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr9:71788384-71792198	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:71788513-71789483	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr9:71788506-71789704	K562	blood:	n/a	n/a
36	STAT1	chr9:71788514-71790719	GM12878	blood:	n/a	chr9:71790165-71790185
37	ZNF263	chr9:71788189-71790989	HEK293-T-REx	kidney:	n/a	chr9:71789375-71789384 chr9:71790258-71790267
38	CHD1	chr9:71788437-71791733	GM12878	blood:	n/a	n/a
39	JUND	chr9:71788163-71791676	SK-N-SH	brain:	n/a	chr9:71791172-71791183

No.	Distal block	Cell Line	Cell type
1	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
2	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
3	chr9:71780838..71784047-chr9:71785849..71788919,3	MCF-7	breast:

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
26	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv3374178	chr9:71787757-71790305	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71752000-71788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:71755600-71788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:71765000-71788600	Weak transcription	Gastric	stomach
4	chr9:71770600-71788600	Weak transcription	Esophagus	oesophagus
5	chr9:71770800-71788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:71779600-71788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:71781400-71788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:71785800-71788600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:71786400-71788600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:71787200-71788600	Enhancers	Fetal Intestine Large	intestine
11	chr9:71787600-71788600	Enhancers	Placenta	Placenta
12	chr9:71787800-71788600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr9:71787800-71788600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:71787800-71788600	Enhancers	Left Ventricle	heart
15	chr9:71787800-71788600	Enhancers	Small Intestine	intestine
16	chr9:71787800-71788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:71787800-71788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:71787800-71788800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr9:71787800-71788800	Flanking Active TSS	NHEK	skin
20	chr9:71788000-71788600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr9:71788000-71788600	Enhancers	Pancreas	Pancrea
22	chr9:71788000-71788800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:71788000-71788800	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr9:71788000-71788800	Flanking Active TSS	GM12878-XiMat	blood
25	chr9:71788000-71789200	Genic enhancers	Fetal Intestine Small	intestine
26	chr9:71788200-71788600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr9:71788200-71788600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr9:71788200-71788600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr9:71788200-71788600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr9:71788200-71788600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:71788200-71788600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr9:71788200-71788600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:71788200-71788600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr9:71788200-71788600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:71788200-71788600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr9:71788200-71788600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr9:71788200-71788800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr9:71788200-71788800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr9:71788200-71788800	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr9:71788200-71788800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr9:71788200-71788800	Flanking Active TSS	Fetal Heart	heart
42	chr9:71788200-71788800	Flanking Active TSS	HepG2	liver
43	chr9:71788200-71788800	Flanking Active TSS	HUVEC	blood vessel
44	chr9:71788200-71788800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr9:71788200-71790800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:71788200-71797200	Enhancers	Stomach Mucosa	stomach
47	chr9:71788400-71788600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:71788400-71788600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:71788400-71788600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:71788400-71788600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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