Variant report

Variant	rs548746046
Chromosome Location	chr7:19156221-19156222
allele	C/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	REST	chr7:19155701-19156235	SK-N-SH	brain:	n/a	n/a
2	YY1	chr7:19156189-19156674	ECC-1	luminal epithelium:	n/a	n/a
3	SUZ12	chr7:19155915-19158190	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:19155705-19158177	IMR90	lung:	n/a	n/a
5	ZNF143	chr7:19155992-19156468	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
7	POLR2A	chr7:19155384-19157737	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr7:19155986-19157868	SK-N-SH	brain:	n/a	n/a
9	MAX	chr7:19155965-19157403	A549	lung:	n/a	n/a
10	MAX	chr7:19155977-19157363	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr7:19155221-19156611	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:19155208-19156651	SK-N-MC	brain:	n/a	n/a
13	TAF1	chr7:19155425-19156640	SK-N-SH	brain:	n/a	n/a
14	ZBTB7A	chr7:19155963-19156531	ECC-1	luminal epithelium:	n/a	chr7:19156143-19156152
15	SIN3A	chr7:19156022-19156635	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr7:19155371-19157892	IMR90	lung:	n/a	n/a
17	E2F6	chr7:19156104-19157116	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr7:19155461-19156632	SH-SY5Y	brain:	n/a	n/a
19	RAD21	chr7:19155507-19156488	IMR90	lung:	n/a	n/a
20	CTBP2	chr7:19155933-19159128	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr7:19156132-19156673	MCF-7	breast:	n/a	n/a
22	FOXP2	chr7:19156150-19156668	PFSK-1	brain:	n/a	n/a
23	MXI1	chr7:19156158-19156358	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF263	chr7:19155916-19157501	HEK293-T-REx	kidney:	n/a	chr7:19155920-19155929 chr7:19157342-19157351 chr7:19155917-19155926
25	POLR2A	chr7:19156005-19156695	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:19155284-19156706	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:19156151-19157613	HEK293	kidney:	n/a	n/a
28	POLR2A	chr7:19155937-19156332	ProgFib	skin:	n/a	n/a
29	MAZ	chr7:19155355-19158174	IMR90	lung:	n/a	chr7:19155768-19155778
30	MAX	chr7:19156114-19157524	ECC-1	luminal epithelium:	n/a	n/a
31	KAP1	chr7:19155962-19156493	HEK293	kidney:	n/a	chr7:19156026-19156034
32	EP300	chr7:19155676-19158995	SK-N-SH	brain:	n/a	chr7:19157558-19157574 chr7:19155896-19155905 chr7:19157535-19157544
33	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
35	REST	chr7:19155702-19156705	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr7:19154659-19157440	H1-neurons	neurons:	n/a	n/a
37	SIN3AK20	chr7:19155320-19156672	SK-N-SH	brain:	n/a	n/a
38	MAX	chr7:19156062-19157547	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr7:19156064-19156487	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:19155995-19157844	Gliobla	brain:	n/a	n/a
41	BACH1	chr7:19155559-19156240	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000236536	TF binding region

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:113 , 50 per page) page: 1 2 3

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	chr7:19154000-19157800	Active TSS	NHLF	lung
6	chr7:19154000-19158000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr7:19154000-19158600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:19154000-19159000	Active TSS	HSMM	muscle
9	chr7:19154200-19158200	Active TSS	Aorta	Aorta
10	chr7:19154800-19157800	Active TSS	NH-A	brain
11	chr7:19154800-19158200	Active TSS	HSMMtube	muscle
12	chr7:19155000-19157400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:19155000-19158400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:19155000-19158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:19155200-19158400	Active TSS	Osteobl	bone
16	chr7:19155200-19158600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:19155200-19159800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr7:19155400-19156600	Bivalent/Poised TSS	A549	lung
21	chr7:19155400-19157800	Active TSS	Ovary	ovary
22	chr7:19155400-19158000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:19155400-19158000	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr7:19155400-19158200	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr7:19155400-19158400	Bivalent/Poised TSS	NHEK	skin
26	chr7:19155600-19156600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:19155600-19156600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:19155600-19156600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr7:19155600-19157400	Bivalent/Poised TSS	Thymus	Thymus
33	chr7:19155600-19158000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:19155600-19158200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:19155600-19158600	Active TSS	NHDF-Ad	bronchial
36	chr7:19155800-19156400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:19155800-19156400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
38	chr7:19155800-19156400	Bivalent Enhancer	Primary T cells from cord blood	blood
39	chr7:19155800-19156400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr7:19155800-19156400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
41	chr7:19155800-19156400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr7:19155800-19156600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
49	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
50	chr7:19155800-19156600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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