Variant report

Variant	rs72449539
Chromosome Location	chr7:19151890-19151891
allele	-/TGAGAAAATA
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	SIN3AK20	chr7:19149882-19152778	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
3	POLR2A	chr7:19145868-19155074	SK-N-SH	brain:	n/a	n/a
4	JUND	chr7:19149723-19152829	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr7:19151880-19152030	SAEC	small airway:	n/a	n/a
6	POLR2A	chr7:19149544-19152965	SK-N-MC	brain:	n/a	n/a
7	MAX	chr7:19151000-19152823	SK-N-SH	brain:	n/a	chr7:19151653-19151664 chr7:19151653-19151663 chr7:19151652-19151665 chr7:19151653-19151664
8	REST	chr7:19151832-19152386	SK-N-SH	brain:	n/a	chr7:19151944-19151964 chr7:19151959-19151972
9	YY1	chr7:19151792-19152704	SK-N-SH	brain:	n/a	chr7:19151962-19151971
10	MAX	chr7:19151069-19151902	SK-N-SH	brain:	n/a	chr7:19151653-19151664 chr7:19151653-19151663 chr7:19151652-19151665 chr7:19151653-19151664
11	GATA3	chr7:19145762-19152987	SK-N-SH	brain:	n/a	chr7:19146332-19146340 chr7:19150113-19150129 chr7:19150116-19150126 chr7:19150118-19150135 chr7:19151263-19151273 chr7:19146793-19146805 chr7:19146491-19146500 chr7:19150113-19150129
12	PBX3	chr7:19151874-19152846	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:19149560-19153309	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
16	SUZ12	chr7:19151343-19152588	H1-hESC	embryonic stem cell:	n/a	n/a
17	SUZ12	chr7:19150034-19153042	NT2-D1	testis:	n/a	n/a
18	POLR2A	chr7:19149438-19152762	SK-N-MC	brain:	n/a	n/a
19	NFIC	chr7:19150457-19152900	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr7:19145759-19152939	SK-N-SH	brain:	n/a	chr7:19146963-19146970 chr7:19146354-19146364 chr7:19150097-19150105 chr7:19145966-19145973

Variant related genes	Relation type
ENSG00000232821	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19148200-19154800	Weak transcription	HSMMtube	muscle
2	chr7:19148400-19152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:19148400-19155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:19148600-19152600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:19149000-19152000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr7:19149000-19152200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:19150000-19152000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr7:19150000-19152000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:19150800-19152200	Active TSS	NHDF-Ad	bronchial
10	chr7:19150800-19153200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr7:19150800-19157200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:19151000-19152000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr7:19151200-19153000	Flanking Active TSS	Osteobl	bone
14	chr7:19151400-19155200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19151600-19152000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr7:19151600-19152400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr7:19151600-19152600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr7:19151600-19152600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:19151600-19152600	Active TSS	Aorta	Aorta
20	chr7:19151600-19152800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:19151600-19153400	Strong transcription	HSMM	muscle
22	chr7:19151800-19152000	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr7:19151800-19152000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:19151800-19152200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr7:19151800-19152200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:19151800-19152200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr7:19151800-19152200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:19151800-19152200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr7:19151800-19152200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:19151800-19152200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
31	chr7:19151800-19152200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr7:19151800-19152200	Enhancers	NH-A	brain
33	chr7:19151800-19152200	Enhancers	NHLF	lung
34	chr7:19151800-19152600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:19151800-19152800	Active TSS	Right Atrium	heart
36	chr7:19151800-19153000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:19151800-19158800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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