Variant report

Variant	rs570811707
Chromosome Location	chr9:71789053-71789054
allele	G/T
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	POLR2A	chr9:71789000-71789428	ECC-1	luminal epithelium:	n/a	n/a
2	GATA3	chr9:71788068-71789581	SK-N-SH	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
3	ELF1	chr9:71788703-71789196	K562	blood:	n/a	chr9:71788755-71788767
4	POLR2A	chr9:71788526-71790651	GM18951	blood:	n/a	n/a
5	YY1	chr9:71788985-71789176	K562	blood:	n/a	n/a
6	POLR2A	chr9:71788956-71789491	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr9:71788534-71789352	PANC-1	pancreas:	n/a	n/a
8	BHLHE40	chr9:71788754-71789263	HepG2	liver:	n/a	n/a
9	YY1	chr9:71788621-71789230	K562	blood:	n/a	chr9:71788894-71788905
10	EGR1	chr9:71788760-71789330	ECC-1	luminal epithelium:	n/a	chr9:71789028-71789041 chr9:71789030-71789040 chr9:71788888-71788901 chr9:71788942-71788956 chr9:71789030-71789040 chr9:71788869-71788878 chr9:71789029-71789043 chr9:71789028-71789042 chr9:71789028-71789041 chr9:71788805-71788814 chr9:71788891-71788901 chr9:71789031-71789040
11	MYC	chr9:71788714-71789558	MCF-7	breast:	n/a	chr9:71788888-71788897
12	EGR1	chr9:71788691-71789261	K562	blood:	n/a	chr9:71789028-71789041 chr9:71788703-71788725 chr9:71789030-71789040 chr9:71788888-71788901 chr9:71788942-71788956 chr9:71789030-71789040 chr9:71788869-71788878 chr9:71789029-71789043 chr9:71789028-71789042 chr9:71789028-71789041 chr9:71788805-71788814 chr9:71788891-71788901 chr9:71789031-71789040
13	CHD2	chr9:71788820-71789552	K562	blood:	n/a	n/a
14	POLR2A	chr9:71788584-71790704	GM19099	blood:	n/a	n/a
15	MAZ	chr9:71788237-71791062	IMR90	lung:	n/a	chr9:71788888-71788897
16	JUND	chr9:71788698-71789244	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F4	chr9:71788940-71789159	GM12878	blood:	n/a	chr9:71789001-71789011
18	MAX	chr9:71788703-71789552	Hela-S3	cervix:	n/a	chr9:71788888-71788897
19	RUNX3	chr9:71788415-71790910	GM12878	blood:	n/a	chr9:71790163-71790172 chr9:71790163-71790172
20	EP300	chr9:71788692-71789206	GM12878	blood:	n/a	chr9:71789002-71789011
21	MAX	chr9:71788595-71789731	ECC-1	luminal epithelium:	n/a	chr9:71788888-71788897
22	EGR1	chr9:71788779-71789207	GM12878	blood:	n/a	chr9:71789028-71789041 chr9:71789030-71789040 chr9:71788888-71788901 chr9:71788942-71788956 chr9:71789030-71789040 chr9:71788869-71788878 chr9:71789029-71789043 chr9:71789028-71789042 chr9:71789028-71789041 chr9:71788805-71788814 chr9:71788891-71788901 chr9:71789031-71789040
23	POLR2A	chr9:71788935-71790378	PBDE	blood:	n/a	n/a
24	POLR2A	chr9:71788671-71791931	GM12878	blood:	n/a	n/a
25	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
26	POLR2A	chr9:71788279-71789665	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3A	chr9:71788559-71789674	H1-hESC	embryonic stem cell:	n/a	chr9:71788756-71788765
28	MAX	chr9:71788526-71790251	K562	blood:	n/a	chr9:71788888-71788897
29	SIN3AK20	chr9:71788628-71789635	PANC-1	pancreas:	n/a	n/a
30	RELA	chr9:71788537-71790846	GM12891	blood:	n/a	n/a
31	POLR2A	chr9:71788443-71791432	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:71788609-71789626	K562	blood:	n/a	n/a
33	HEY1	chr9:71789047-71789430	HepG2	liver:	n/a	n/a
34	POLR2A	chr9:71789003-71789833	GM12891	blood:	n/a	n/a
35	HCFC1	chr9:71788786-71789269	K562	blood:	n/a	n/a
36	IRF1	chr9:71789002-71789232	K562	blood:	n/a	n/a
37	MAX	chr9:71788597-71789722	HepG2	liver:	n/a	chr9:71788888-71788897
38	RELA	chr9:71788614-71790787	GM15510	blood:	n/a	n/a
39	POLR2A	chr9:71788602-71789684	GM15510	blood:	n/a	n/a
40	POLR2A	chr9:71788553-71789797	Raji	blood:	n/a	n/a
41	EP300	chr9:71788565-71789168	H1-hESC	embryonic stem cell:	n/a	chr9:71789002-71789011
42	EGR1	chr9:71788756-71789287	MCF-7	breast:	n/a	chr9:71789028-71789041 chr9:71789030-71789040 chr9:71788888-71788901 chr9:71788942-71788956 chr9:71789030-71789040 chr9:71788869-71788878 chr9:71789029-71789043 chr9:71789028-71789042 chr9:71789028-71789041 chr9:71788805-71788814 chr9:71788891-71788901 chr9:71789031-71789040
43	POLR2A	chr9:71789017-71789358	SK-N-SH	brain:	n/a	n/a
44	MXI1	chr9:71788678-71789706	HepG2	liver:	n/a	n/a
45	POLR2A	chr9:71788402-71789859	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:71788590-71789364	HUVEC	blood vessel:	n/a	n/a
47	TCF12	chr9:71788632-71789358	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr9:71789041-71789751	HepG2	liver:	n/a	n/a
49	POLR2A	chr9:71788891-71789592	H1-hESC	embryonic stem cell:	n/a	n/a
50	E2F6	chr9:71788668-71789444	K562	blood:	n/a	chr9:71788804-71788818 chr9:71789001-71789011 chr9:71788801-71788815

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
2	chr9:71734142..71739001-chr9:71788032..71795507,11	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71788000-71789200	Genic enhancers	Fetal Intestine Small	intestine
2	chr9:71788200-71790800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:71788200-71797200	Enhancers	Stomach Mucosa	stomach
4	chr9:71788400-71789200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr9:71788400-71789200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:71788400-71789200	Active TSS	Fetal Muscle Trunk	muscle
7	chr9:71788400-71789600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr9:71788400-71790000	Active TSS	Duodenum Mucosa	Duodenum
9	chr9:71788400-71790200	Active TSS	Psoas Muscle	Psoas
10	chr9:71788400-71790200	Active TSS	Right Atrium	heart
11	chr9:71788400-71790200	Active TSS	HSMMtube	muscle
12	chr9:71788400-71790400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:71788400-71790400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:71788400-71790400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr9:71788400-71790400	Active TSS	Brain Angular Gyrus	brain
16	chr9:71788400-71790400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr9:71788400-71790400	Active TSS	NHLF	lung
18	chr9:71788400-71790600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr9:71788400-71790600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr9:71788400-71790600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:71788400-71790600	Active TSS	Ovary	ovary
22	chr9:71788400-71790800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:71788400-71790800	Active TSS	Aorta	Aorta
24	chr9:71788400-71791200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr9:71788600-71789200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:71788600-71789200	Active TSS	Spleen	Spleen
27	chr9:71788600-71789400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr9:71788600-71789400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr9:71788600-71789400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr9:71788600-71789400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:71788600-71789600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:71788600-71789600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:71788600-71789600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr9:71788600-71789600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr9:71788600-71789600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr9:71788600-71789800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr9:71788600-71789800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:71788600-71789800	Active TSS	Fetal Kidney	kidney
39	chr9:71788600-71789800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:71788600-71790000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:71788600-71790000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:71788600-71790000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:71788600-71790000	Active TSS	Fetal Lung	lung
44	chr9:71788600-71790000	Active TSS	Hela-S3	cervix
45	chr9:71788600-71790200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:71788600-71790200	Active TSS	Colonic Mucosa	Colon
47	chr9:71788600-71790200	Active TSS	K562	blood
48	chr9:71788600-71790400	Active TSS	Fetal Intestine Large	intestine
49	chr9:71788600-71790400	Bivalent/Poised TSS	Thymus	Thymus
50	chr9:71788600-71790600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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