Variant report

Variant	rs534898285
Chromosome Location	chr9:71788646-71788647
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	GATA3	chr9:71788068-71789581	SK-N-SH	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
2	POLR2A	chr9:71788526-71790651	GM18951	blood:	n/a	n/a
3	POLR2A	chr9:71788363-71788810	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:71788534-71789352	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr9:71788636-71788897	Hela-S3	cervix:	n/a	n/a
6	YY1	chr9:71788621-71789230	K562	blood:	n/a	chr9:71788894-71788905
7	EBF1	chr9:71788645-71788760	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:71788584-71790704	GM19099	blood:	n/a	n/a
9	MAZ	chr9:71788237-71791062	IMR90	lung:	n/a	chr9:71788888-71788897
10	RUNX3	chr9:71788415-71790910	GM12878	blood:	n/a	chr9:71790163-71790172 chr9:71790163-71790172
11	MAX	chr9:71788595-71789731	ECC-1	luminal epithelium:	n/a	chr9:71788888-71788897
12	GATA2	chr9:71788056-71788827	SH-SY5Y	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
13	EP300	chr9:71788552-71790590	SK-N-SH	brain:	n/a	chr9:71789002-71789011 chr9:71789826-71789840 chr9:71789827-71789841 chr9:71789829-71789843 chr9:71789745-71789759 chr9:71789828-71789842 chr9:71789830-71789844
14	POLR2A	chr9:71788279-71789665	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr9:71788559-71789674	H1-hESC	embryonic stem cell:	n/a	chr9:71788756-71788765
16	MAX	chr9:71788526-71790251	K562	blood:	n/a	chr9:71788888-71788897
17	SIN3AK20	chr9:71788628-71789635	PANC-1	pancreas:	n/a	n/a
18	RELA	chr9:71788537-71790846	GM12891	blood:	n/a	n/a
19	POLR2A	chr9:71788443-71791432	GM12878	blood:	n/a	n/a
20	BHLHE40	chr9:71788609-71789626	K562	blood:	n/a	n/a
21	TAF1	chr9:71788618-71788949	GM12878	blood:	n/a	n/a
22	MAX	chr9:71788597-71789722	HepG2	liver:	n/a	chr9:71788888-71788897
23	RELA	chr9:71788614-71790787	GM15510	blood:	n/a	n/a
24	POLR2A	chr9:71788602-71789684	GM15510	blood:	n/a	n/a
25	POLR2A	chr9:71788553-71789797	Raji	blood:	n/a	n/a
26	EP300	chr9:71788565-71789168	H1-hESC	embryonic stem cell:	n/a	chr9:71789002-71789011
27	POLR2A	chr9:71788402-71789859	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:71788590-71789364	HUVEC	blood vessel:	n/a	n/a
29	TCF12	chr9:71788632-71789358	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr9:71788399-71788868	U87	brain:	n/a	n/a
31	JUND	chr9:71788280-71789896	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr9:71788409-71789760	MCF-7	breast:	n/a	chr9:71788804-71788818 chr9:71789001-71789011 chr9:71788801-71788815
33	POLR2A	chr9:71787068-71792412	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr9:71788468-71790847	GM12892	blood:	n/a	n/a
35	POLR2A	chr9:71788562-71789593	K562	blood:	n/a	n/a
36	POLR2A	chr9:71787790-71792027	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr9:71788629-71789422	K562	blood:	n/a	chr9:71789002-71789011
38	E2F6	chr9:71788601-71789650	K562	blood:	n/a	chr9:71788804-71788818 chr9:71789001-71789011 chr9:71788801-71788815
39	TAF1	chr9:71788570-71789491	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr9:71788627-71789276	SK-N-SH	brain:	n/a	chr9:71788888-71788897
41	POLR2A	chr9:71788384-71788862	U87	brain:	n/a	n/a
42	MAX	chr9:71788563-71789696	ECC-1	luminal epithelium:	n/a	chr9:71788888-71788897
43	MYC	chr9:71788622-71789765	K562	blood:	n/a	chr9:71788888-71788897
44	PML	chr9:71788511-71791175	GM12878	blood:	n/a	n/a
45	CTBP2	chr9:71788494-71789597	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr9:71788514-71789605	HL-60	blood:	n/a	n/a
47	MAX	chr9:71788585-71789678	SK-N-SH	brain:	n/a	chr9:71788888-71788897
48	PML	chr9:71788540-71788857	K562	blood:	n/a	n/a
49	RUNX3	chr9:71788397-71790952	GM12878	blood:	n/a	chr9:71790163-71790172 chr9:71790163-71790172
50	POLR2A	chr9:71788592-71788866	SK-N-SH	brain:	n/a	n/a

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71770800-71788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:71787800-71788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:71787800-71788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:71787800-71788800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr9:71787800-71788800	Flanking Active TSS	NHEK	skin
6	chr9:71788000-71788800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:71788000-71788800	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr9:71788000-71788800	Flanking Active TSS	GM12878-XiMat	blood
9	chr9:71788000-71789200	Genic enhancers	Fetal Intestine Small	intestine
10	chr9:71788200-71788800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr9:71788200-71788800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr9:71788200-71788800	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr9:71788200-71788800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr9:71788200-71788800	Flanking Active TSS	Fetal Heart	heart
15	chr9:71788200-71788800	Flanking Active TSS	HepG2	liver
16	chr9:71788200-71788800	Flanking Active TSS	HUVEC	blood vessel
17	chr9:71788200-71788800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr9:71788200-71790800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:71788200-71797200	Enhancers	Stomach Mucosa	stomach
20	chr9:71788400-71788800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:71788400-71788800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:71788400-71788800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:71788400-71788800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:71788400-71788800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
27	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
30	chr9:71788400-71788800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:71788400-71788800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
33	chr9:71788400-71788800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:71788400-71788800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr9:71788400-71788800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr9:71788400-71788800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:71788400-71788800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:71788400-71788800	Flanking Active TSS	Liver	Liver
39	chr9:71788400-71788800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr9:71788400-71788800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr9:71788400-71788800	Enhancers	Lung	lung
43	chr9:71788400-71788800	Flanking Active TSS	Right Ventricle	heart
44	chr9:71788400-71788800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr9:71788400-71788800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr9:71788400-71788800	Flanking Active TSS	HMEC	breast
47	chr9:71788400-71788800	Flanking Active TSS	HSMM	muscle
48	chr9:71788400-71788800	Flanking Active TSS	NH-A	brain
49	chr9:71788400-71788800	Flanking Active TSS	Osteobl	bone
50	chr9:71788400-71789000	Active TSS	HUES6 Cell Line	embryonic stem cell

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