Variant report

Variant	rs73197777
Chromosome Location	chr8:9007891-9007892
allele	C/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	SMC3	chr8:9006934-9009605	SK-N-SH	brain:	n/a	chr8:9009317-9009331
2	SIN3AK20	chr8:9007857-9008239	PANC-1	pancreas:	n/a	n/a
3	MXI1	chr8:9007790-9008299	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBL1XR1	chr8:9007817-9008471	K562	blood:	n/a	n/a
5	RAD21	chr8:9007684-9009175	HCT-116	colon:	n/a	chr8:9008888-9008902
6	POLR2A	chr8:9007890-9008249	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr8:9007885-9008465	GM12878	blood:	n/a	n/a
8	RCOR1	chr8:9007747-9008558	Hela-S3	cervix:	n/a	n/a
9	SIN3AK20	chr8:9007808-9008435	PFSK-1	brain:	n/a	n/a
10	RCOR1	chr8:9007821-9008810	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:9007832-9008902	HL-60	blood:	n/a	n/a
12	CHD1	chr8:9007788-9008688	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:9007835-9008727	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr8:9007240-9008396	MCF10A-Er-Src	breast:	n/a	n/a
15	RFX5	chr8:9007788-9008492	Hela-S3	cervix:	n/a	n/a
16	MYC	chr8:9007871-9009385	K562	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
17	CHD1	chr8:9007768-9008431	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr8:9007771-9008779	HCT-116	colon:	n/a	n/a
19	POLR2A	chr8:9007474-9009360	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr8:9007747-9009278	Hela-S3	cervix:	n/a	chr8:9009222-9009231
21	POLR2A	chr8:9007804-9008370	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:9007642-9008489	HUVEC	blood vessel:	n/a	n/a
23	RAD21	chr8:9007610-9008939	IMR90	lung:	n/a	chr8:9008888-9008902
24	POLR2A	chr8:9006933-9009601	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr8:9007853-9008733	A549	lung:	n/a	n/a
26	POLR2A	chr8:9007869-9009326	HL-60	blood:	n/a	n/a
27	MAX	chr8:9007808-9009388	K562	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
28	MYC	chr8:9007850-9009401	K562	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
29	ZBTB7A	chr8:9007871-9008438	K562	blood:	n/a	n/a
30	POLR2A	chr8:9006842-9008617	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr8:9007810-9009621	HCT-116	colon:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
32	CTCF	chr8:9007115-9009552	SK-N-SH	brain:	n/a	chr8:9008888-9008901 chr8:9007531-9007540 chr8:9008969-9008982
33	ZKSCAN1	chr8:9007556-9008715	Hela-S3	cervix:	n/a	n/a
34	ELF1	chr8:9007872-9009310	GM12878	blood:	n/a	chr8:9008948-9008960
35	POLR2A	chr8:9007573-9008477	HUVEC	blood vessel:	n/a	n/a
36	TAF1	chr8:9007720-9009536	ECC-1	luminal epithelium:	n/a	n/a
37	BRCA1	chr8:9007879-9008398	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:9007501-9008489	U87	brain:	n/a	n/a
39	MAX	chr8:9007765-9009482	GM12878	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
40	TAF1	chr8:9007885-9008484	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr8:9007881-9008490	MCF-7	breast:	n/a	n/a
42	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
43	ZNF263	chr8:9007212-9009648	HEK293-T-REx	kidney:	n/a	chr8:9009020-9009029 chr8:9008227-9008236
44	STAT3	chr8:9007363-9008419	MCF10A-Er-Src	breast:	n/a	n/a
45	PML	chr8:9007741-9008658	GM12878	blood:	n/a	n/a
46	TCF12	chr8:9007558-9009487	ECC-1	luminal epithelium:	n/a	n/a
47	STAT3	chr8:9007639-9008435	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr8:9007765-9008515	SK-N-MC	brain:	n/a	n/a
49	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
50	POLR2A	chr8:9007806-9008406	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:28907741..28908251-chr8:9007865..9008555,2	Hela-S3	cervix:
2	chr17:41464725..41467808-chr8:9007471..9010491,5	K562	blood:
3	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253426	TF binding region
ENSG00000239078	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000197989	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:126 , 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	chr8:9005600-9009600	Active TSS	Right Ventricle	heart
3	chr8:9006000-9008600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9006000-9009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:9006200-9008400	Active TSS	Fetal Intestine Large	intestine
6	chr8:9006200-9008400	Active TSS	NHLF	lung
7	chr8:9006200-9008600	Active TSS	Fetal Intestine Small	intestine
8	chr8:9006200-9008600	Active TSS	Stomach Mucosa	stomach
9	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:9006200-9009600	Active TSS	Right Atrium	heart
11	chr8:9006400-9008400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:9006400-9008400	Active TSS	Placenta	Placenta
13	chr8:9006400-9008400	Active TSS	HUVEC	blood vessel
14	chr8:9006400-9008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:9006400-9009200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:9006400-9009400	Active TSS	Aorta	Aorta
17	chr8:9006400-9009600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:9006400-9009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:9006400-9009600	Active TSS	Left Ventricle	heart
20	chr8:9006400-9009600	Active TSS	Psoas Muscle	Psoas
21	chr8:9006400-9010000	Active TSS	Liver	Liver
22	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:9006800-9008600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:9007000-9008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:9007000-9008000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr8:9007000-9008000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:9007000-9008000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr8:9007000-9008000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:9007000-9008200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:9007000-9008400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:9007000-9008600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:9007000-9008600	Active TSS	Lung	lung
33	chr8:9007000-9008600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:9007000-9008600	Active TSS	HSMM	muscle
35	chr8:9007000-9008600	Active TSS	NHDF-Ad	bronchial
36	chr8:9007000-9008800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr8:9007000-9009000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:9007000-9009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:9007000-9009600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:9007000-9009600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr8:9007000-9009600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:9007000-9009600	Active TSS	Brain Anterior Caudate	brain
43	chr8:9007000-9009600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:9007000-9009600	Active TSS	Ovary	ovary
45	chr8:9007000-9009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:9007000-9009800	Active TSS	Fetal Heart	heart
47	chr8:9007200-9008000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:9007200-9008000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr8:9007200-9008000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:9007200-9008000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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