Variant report

Variant	rs2285682
Chromosome Location	chr7:19159016-19159017
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	chr7:19158378-19159418	H1-neurons	neurons:	n/a	n/a
2	USF1	chr7:19158640-19159060	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr7:19157152-19160135	SH-SY5Y	brain:	n/a	n/a
4	MAX	chr7:19158555-19159088	H1-hESC	embryonic stem cell:	n/a	chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158828-19158838 chr7:19158827-19158838 chr7:19158828-19158838 chr7:19158828-19158837 chr7:19158827-19158837 chr7:19158826-19158839 chr7:19158827-19158837
5	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
6	POLR2A	chr7:19158616-19159674	H1-neurons	neurons:	n/a	n/a
7	MAX	chr7:19156834-19159384	SK-N-SH	brain:	n/a	chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158828-19158838 chr7:19158827-19158838 chr7:19158828-19158838 chr7:19158828-19158837 chr7:19158827-19158837 chr7:19158826-19158839 chr7:19158827-19158837
8	USF1	chr7:19158673-19159040	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:19158794-19159059	ProgFib	skin:	n/a	n/a
10	E2F6	chr7:19158458-19159138	H1-hESC	embryonic stem cell:	n/a	chr7:19158719-19158731
11	USF1	chr7:19158539-19159111	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr7:19158516-19159067	H1-hESC	embryonic stem cell:	n/a	chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158828-19158838 chr7:19158827-19158838 chr7:19158828-19158838 chr7:19158828-19158837 chr7:19158827-19158837 chr7:19158826-19158839 chr7:19158827-19158837
13	POLR2A	chr7:19156719-19160247	SK-N-SH	brain:	n/a	n/a
14	SIN3AK20	chr7:19158521-19159082	SK-N-SH	brain:	n/a	n/a
15	CTBP2	chr7:19155933-19159128	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr7:19158669-19159020	SK-N-SH_RA	brain:	n/a	n/a
17	RAD21	chr7:19157780-19162195	SK-N-SH	brain:	n/a	chr7:19158102-19158121 chr7:19158107-19158119
18	MAX	chr7:19158507-19159170	H1-hESC	embryonic stem cell:	n/a	chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158828-19158838 chr7:19158827-19158838 chr7:19158828-19158838 chr7:19158828-19158837 chr7:19158827-19158837 chr7:19158826-19158839 chr7:19158827-19158837
19	CTCF	chr7:19158940-19159090	AG04449	skin:	n/a	n/a
20	REST	chr7:19158548-19159073	SK-N-SH	brain:	n/a	n/a
21	MXI1	chr7:19158650-19159063	H1-hESC	embryonic stem cell:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
22	E2F6	chr7:19158553-19159075	H1-hESC	embryonic stem cell:	n/a	chr7:19158719-19158731
23	MAX	chr7:19158354-19159240	SK-N-SH	brain:	n/a	chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158827-19158838 chr7:19158826-19158839 chr7:19158828-19158838 chr7:19158827-19158838 chr7:19158828-19158838 chr7:19158828-19158837 chr7:19158827-19158837 chr7:19158826-19158839 chr7:19158827-19158837

Variant related genes	Relation type
TWIST1	TF binding region
ENSG00000236536	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11535165	1.00[AMR][1000 genomes]
rs11975390	1.00[CEU][hapmap]
rs2389995	1.00[CEU][hapmap]
rs4647960	0.97[ASN][1000 genomes]
rs4721746	0.87[ASN][1000 genomes]
rs57763555	1.00[EUR][1000 genomes]
rs61673177	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19155200-19159800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:19155800-19159200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr7:19157600-19159200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr7:19157600-19159600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:19157800-19159200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:19157800-19159200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:19158000-19159200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:19158000-19159400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:19158200-19159200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:19158200-19159200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:19158200-19159800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:19158400-19159200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr7:19158400-19159200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr7:19158400-19160000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr7:19158400-19161600	Weak transcription	Osteobl	bone
16	chr7:19158600-19159200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr7:19158600-19159200	Flanking Active TSS	NHDF-Ad	bronchial
18	chr7:19158600-19159600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:19158600-19159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:19158600-19159800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:19158600-19160200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:19158800-19159200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:19158800-19159200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr7:19159000-19159200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr7:19159000-19159200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:19159000-19159200	Bivalent Enhancer	NH-A	brain
27	chr7:19159000-19159400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:19159000-19159600	Weak transcription	HSMM	muscle
29	chr7:19159000-19159800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr7:19159000-19160000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr7:19159000-19160000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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