Variant report

Variant	rs534632916
Chromosome Location	chr8:9007430-9007431
allele	A/C
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	SMC3	chr8:9006934-9009605	SK-N-SH	brain:	n/a	chr8:9009317-9009331
2	FOS	chr8:9007346-9007546	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr8:9007240-9008396	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:9006933-9009601	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr8:9007340-9007490	HCPEpiC	choroid plexus:	n/a	n/a
6	POLR2A	chr8:9007196-9007517	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr8:9006842-9008617	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr8:9007115-9009552	SK-N-SH	brain:	n/a	chr8:9008888-9008901 chr8:9007531-9007540 chr8:9008969-9008982
9	RAD21	chr8:9007366-9007869	SK-N-SH_RA	brain:	n/a	n/a
10	MAZ	chr8:9007135-9009468	IMR90	lung:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9007732-9007742 chr8:9008626-9008635 chr8:9009221-9009230 chr8:9007644-9007653
11	ZNF263	chr8:9007212-9009648	HEK293-T-REx	kidney:	n/a	chr8:9009020-9009029 chr8:9008227-9008236
12	STAT3	chr8:9007363-9008419	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr8:9007205-9009244	K562	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9007732-9007742 chr8:9008626-9008635 chr8:9009221-9009230 chr8:9007644-9007653
14	RCOR1	chr8:9007297-9007623	K562	blood:	n/a	n/a
15	SMC3	chr8:9007323-9009169	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:9007260-9009678	A549	lung:	n/a	chr8:9008888-9008901 chr8:9007531-9007540 chr8:9008969-9008982
17	MXI1	chr8:9007017-9009588	IMR90	lung:	n/a	chr8:9009222-9009231
18	SMARCB1	chr8:9007364-9009501	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr8:9007233-9008636	H1-hESC	embryonic stem cell:	n/a	chr8:9008605-9008618 chr8:9008582-9008591
20	POLR2A	chr8:9006847-9009387	MCF10A-Er-Src	breast:	n/a	n/a
21	MXI1	chr8:9006929-9010199	SK-N-SH	brain:	n/a	chr8:9009222-9009231
22	POLR2A	chr8:9007061-9009540	Hela-S3	cervix:	n/a	n/a
23	JUN	chr8:9006935-9009607	K562	blood:	n/a	chr8:9009031-9009042
24	SMARCC1	chr8:9007357-9009349	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr8:9007335-9008579	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr8:9007073-9008496	IMR90	lung:	n/a	n/a
27	POLR2A	chr8:9006930-9008416	HUVEC	blood vessel:	n/a	n/a
28	RAD21	chr8:9006978-9009643	SK-N-SH	brain:	n/a	chr8:9008888-9008902 chr8:9009321-9009331
29	JUND	chr8:9007336-9007622	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:9007247-9008501	K562	blood:	n/a	n/a
31	POLR2A	chr8:9007158-9008513	U87	brain:	n/a	n/a
32	POLR2A	chr8:9007074-9008547	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253426	TF binding region
ENSG00000239078	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9005000-9008400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:9005200-9007600	Enhancers	Small Intestine	intestine
3	chr8:9005600-9009600	Active TSS	Right Ventricle	heart
4	chr8:9006000-9008600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:9006000-9009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:9006200-9008400	Active TSS	Fetal Intestine Large	intestine
7	chr8:9006200-9008400	Active TSS	NHLF	lung
8	chr8:9006200-9008600	Active TSS	Fetal Intestine Small	intestine
9	chr8:9006200-9008600	Active TSS	Stomach Mucosa	stomach
10	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:9006200-9009600	Active TSS	Right Atrium	heart
12	chr8:9006400-9008400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:9006400-9008400	Active TSS	Placenta	Placenta
14	chr8:9006400-9008400	Active TSS	HUVEC	blood vessel
15	chr8:9006400-9008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:9006400-9009200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:9006400-9009400	Active TSS	Aorta	Aorta
18	chr8:9006400-9009600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:9006400-9009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:9006400-9009600	Active TSS	Left Ventricle	heart
21	chr8:9006400-9009600	Active TSS	Psoas Muscle	Psoas
22	chr8:9006400-9010000	Active TSS	Liver	Liver
23	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:9006600-9007600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:9006800-9008600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:9007000-9007600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:9007000-9007600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:9007000-9007600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:9007000-9007600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:9007000-9007600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr8:9007000-9007600	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr8:9007000-9007600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:9007000-9007600	Flanking Active TSS	K562	blood
34	chr8:9007000-9007600	Flanking Active TSS	Osteobl	bone
35	chr8:9007000-9007800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:9007000-9007800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:9007000-9007800	Flanking Active TSS	Fetal Stomach	stomach
38	chr8:9007000-9007800	Flanking Active TSS	A549	lung
39	chr8:9007000-9007800	Flanking Active TSS	Hela-S3	cervix
40	chr8:9007000-9008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr8:9007000-9008000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:9007000-9008000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:9007000-9008000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr8:9007000-9008000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:9007000-9008200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:9007000-9008400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:9007000-9008600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:9007000-9008600	Active TSS	Lung	lung
49	chr8:9007000-9008600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr8:9007000-9008600	Active TSS	HSMM	muscle

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