Variant report

Variant	rs576400040
Chromosome Location	chr7:19155833-19155834
allele	A/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	REST	chr7:19155701-19156235	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:19155705-19158177	IMR90	lung:	n/a	n/a
3	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
4	POLR2A	chr7:19155384-19157737	SK-N-SH	brain:	n/a	n/a
5	GABPA	chr7:19155752-19156060	A549	lung:	n/a	n/a
6	GATA3	chr7:19155221-19156611	SK-N-SH	brain:	n/a	n/a
7	SPI1	chr7:19155812-19155992	K562	blood:	n/a	chr7:19155918-19155931 chr7:19155894-19155907 chr7:19155896-19155905 chr7:19155897-19155904 chr7:19155893-19155906
8	POLR2A	chr7:19155208-19156651	SK-N-MC	brain:	n/a	n/a
9	TAF1	chr7:19155425-19156640	SK-N-SH	brain:	n/a	n/a
10	MXI1	chr7:19155371-19157892	IMR90	lung:	n/a	n/a
11	GATA2	chr7:19155461-19156632	SH-SY5Y	brain:	n/a	n/a
12	RAD21	chr7:19155507-19156488	IMR90	lung:	n/a	n/a
13	FOS	chr7:19155795-19155856	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:19155791-19155941	MCF10A-Er-Src	breast:	n/a	n/a
15	SPI1	chr7:19155642-19156170	HL-60	blood:	n/a	chr7:19155918-19155931 chr7:19155894-19155907 chr7:19155896-19155905 chr7:19155897-19155904 chr7:19155893-19155906
16	POLR2A	chr7:19155284-19156706	SK-N-MC	brain:	n/a	n/a
17	MAZ	chr7:19155355-19158174	IMR90	lung:	n/a	chr7:19155768-19155778
18	EP300	chr7:19155676-19158995	SK-N-SH	brain:	n/a	chr7:19157558-19157574 chr7:19155896-19155905 chr7:19157535-19157544
19	POLR2A	chr7:19155189-19156034	MCF10A-Er-Src	breast:	n/a	n/a
20	GABPA	chr7:19155732-19156108	HL-60	blood:	n/a	n/a
21	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
22	SPI1	chr7:19155811-19156119	HL-60	blood:	n/a	chr7:19155918-19155931 chr7:19155894-19155907 chr7:19155896-19155905 chr7:19155897-19155904 chr7:19155893-19155906
23	MYC	chr7:19155763-19155948	MCF10A-Er-Src	breast:	n/a	chr7:19155768-19155778
24	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
25	REST	chr7:19155702-19156705	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:19154659-19157440	H1-neurons	neurons:	n/a	n/a
27	TAF1	chr7:19155595-19156175	SK-N-SH	brain:	n/a	n/a
28	SIN3AK20	chr7:19155320-19156672	SK-N-SH	brain:	n/a	n/a
29	BACH1	chr7:19155559-19156240	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19155785-19155835	Hela-S3	cervix:	n/a
2	chr7:19155785-19155835	HCT-116	colon:	n/a
3	chr7:19155806-19155856	HIPEpiC	eye:	n/a
4	chr7:19155785-19155835	T-47D	breast:	n/a
5	chr7:19155806-19155856	NHDF-neo	bronchial:	n/a
6	chr7:19155806-19155856	RPTEC	kidney:	n/a
7	chr7:19155806-19155856	HNPCEpiC	eye:	n/a
8	chr7:19155806-19155856	AG10803	skin:	n/a
9	chr7:19155806-19155856	HEK293	kidney:	embryo
10	chr7:19155785-19155835	MCF10A-Er-Src	breast:	n/a
11	chr7:19155806-19155856	AG04449	skin:	fetal
12	chr7:19155785-19155835	HRE	kidney:	n/a
13	chr7:19155785-19155835	GM19239	blood:	n/a
14	chr7:19155785-19155835	SK-N-SH_RA	brain:	n/a
15	chr7:19155806-19155856	SK-N-SH	brain:	n/a
16	chr7:19155806-19155856	HL-60	blood:	n/a
17	chr7:19155785-19155835	GM12892	blood:	n/a
18	chr7:19155806-19155856	HAEpiC	amniotic membrane:	n/a
19	chr7:19155785-19155835	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:19155806-19155856	BE2_C	brain:	n/a
21	chr7:19155806-19155856	LNCaP	prostate:	n/a
22	chr7:19155806-19155856	HRCEpiC	kidney:	n/a
23	chr7:19155785-19155835	GM12891	blood:	n/a
24	chr7:19155806-19155856	SAEC	small airway:	n/a
25	chr7:19155806-19155856	SK-N-SH_RA	brain:	n/a
26	chr7:19155785-19155835	HNPCEpiC	eye:	n/a
27	chr7:19155806-19155856	Hepatocyte	liver:	n/a
28	chr7:19155785-19155835	HCM	heart:	n/a
29	chr7:19155785-19155835	PANC-1	pancreas:	n/a
30	chr7:19155785-19155835	HRCEpiC	kidney:	n/a
31	chr7:19155806-19155856	GM12891	blood:	n/a
32	chr7:19155806-19155856	SK-N-MC	brain:	n/a
33	chr7:19155806-19155856	PrEC	prostate:	n/a
34	chr7:19155806-19155856	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:19155806-19155856	NB4	blood:	n/a
36	chr7:19155806-19155856	A549	lung:	n/a
37	chr7:19155806-19155856	H1-hESC	embryonic stem cell:	embryo
38	chr7:19155806-19155856	Jurkat	blood:	n/a
39	chr7:19155806-19155856	NH-A	brain:	n/a
40	chr7:19155785-19155835	PrEC	prostate:	n/a
41	chr7:19155785-19155835	NHBE	bronchial:	n/a
42	chr7:19155806-19155856	PFSK-1	brain:	n/a
43	chr7:19155806-19155856	CMK	blood:	n/a
44	chr7:19155785-19155835	HepG2	liver:	n/a
45	chr7:19155806-19155856	T-47D	breast:	n/a
46	chr7:19155806-19155856	K562	blood:	n/a
47	chr7:19155785-19155835	SAEC	small airway:	n/a
48	chr7:19155785-19155835	U87	brain:	n/a
49	chr7:19155806-19155856	ovcar-3	ovarian:	n/a
50	chr7:19155785-19155835	ovcar-3	ovarian:	n/a

Variant related genes	Relation type
ENSG00000236536	TF binding region
ENSG00000236536	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538767	chr7:19150355-19163170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1028132	chr7:19150355-19172107	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv538768	chr7:19150355-19172107	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538769	chr7:19150920-19160604	Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv538770	chr7:19151576-19159136	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	n/a
9	nsv538771	chr7:19151576-19162140	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
10	nsv538772	chr7:19152061-19159275	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv538773	chr7:19152455-19158088	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv538774	chr7:19152455-19162140	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv538775	chr7:19152934-19162079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv1023268	chr7:19152934-19172246	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv538776	chr7:19152934-19172246	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv538777	chr7:19153407-19158716	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
17	nsv538778	chr7:19153407-19159075	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
18	nsv538779	chr7:19153407-19159275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
19	nsv538780	chr7:19153407-19163309	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	nsv538781	chr7:19153408-19159276	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
21	nsv538782	chr7:19153408-19163310	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
22	nsv1034825	chr7:19153408-19172247	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
23	nsv538783	chr7:19153408-19172247	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
24	nsv538784	chr7:19153607-19158577	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a
25	nsv538785	chr7:19153607-19163170	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
26	nsv538786	chr7:19154379-19159075	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
27	nsv538787	chr7:19154807-19158716	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
28	nsv538788	chr7:19154807-19160743	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
29	nsv538789	chr7:19155007-19158088	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
30	nsv538790	chr7:19155184-19158243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
31	esv3374264	chr7:19155652-19158400	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19150800-19157200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:19151800-19158800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:19153600-19158600	Active TSS	Right Atrium	heart
4	chr7:19153800-19158000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:19154000-19156000	Active TSS	Placenta	Placenta
6	chr7:19154000-19157800	Active TSS	NHLF	lung
7	chr7:19154000-19158000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:19154000-19158600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:19154000-19159000	Active TSS	HSMM	muscle
10	chr7:19154200-19158200	Active TSS	Aorta	Aorta
11	chr7:19154600-19156000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:19154800-19157800	Active TSS	NH-A	brain
13	chr7:19154800-19158200	Active TSS	HSMMtube	muscle
14	chr7:19155000-19157400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:19155000-19158400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:19155000-19158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:19155200-19156000	Active TSS	HMEC	breast
18	chr7:19155200-19158400	Active TSS	Osteobl	bone
19	chr7:19155200-19158600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:19155200-19159800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:19155400-19156000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:19155400-19156000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr7:19155400-19156000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
24	chr7:19155400-19156000	Active TSS	Right Ventricle	heart
25	chr7:19155400-19156200	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr7:19155400-19156600	Bivalent/Poised TSS	A549	lung
29	chr7:19155400-19157800	Active TSS	Ovary	ovary
30	chr7:19155400-19158000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:19155400-19158000	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr7:19155400-19158200	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr7:19155400-19158400	Bivalent/Poised TSS	NHEK	skin
34	chr7:19155600-19156000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:19155600-19156000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr7:19155600-19156000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:19155600-19156000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr7:19155600-19156000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:19155600-19156000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr7:19155600-19156000	Bivalent Enhancer	HUVEC	blood vessel
41	chr7:19155600-19156200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr7:19155600-19156200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr7:19155600-19156200	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr7:19155600-19156600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:19155600-19156600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr7:19155600-19157400	Bivalent/Poised TSS	Thymus	Thymus

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