Variant report

Variant	rs573293603
Chromosome Location	chr8:60031170-60031171
allele	A/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	RAD21	chr8:60031061-60031344	SK-N-SH_RA	brain:	n/a	chr8:60031311-60031324
2	ELF1	chr8:60031169-60031554	GM12878	blood:	n/a	chr8:60031342-60031354
3	TEAD4	chr8:60031047-60031334	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr8:60030931-60031981	H1-neurons	neurons:	n/a	n/a
5	CHD1	chr8:60030803-60031706	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:60030546-60031779	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:60031167-60031365	ProgFib	skin:	n/a	n/a
8	GATA2	chr8:60029971-60031737	SH-SY5Y	brain:	n/a	chr8:60029990-60030001
9	POLR2A	chr8:60030991-60031498	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr8:60029834-60032002	IMR90	lung:	n/a	chr8:60030980-60030995
11	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
12	SPI1	chr8:60030651-60031287	HL-60	blood:	n/a	chr8:60030803-60030812 chr8:60031054-60031067 chr8:60031002-60031015 chr8:60031040-60031053
13	TBP	chr8:60030915-60031776	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr8:60030822-60031492	ECC-1	luminal epithelium:	n/a	n/a
15	CTBP2	chr8:60029997-60031649	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:60031169-60031520	HUVEC	blood vessel:	n/a	n/a
17	MAZ	chr8:60031136-60031819	Hela-S3	cervix:	n/a	n/a
18	REST	chr8:60029630-60032925	H1-neurons	neurons:	n/a	chr8:60030756-60030769 chr8:60031242-60031262 chr8:60030645-60030658
19	MAX	chr8:60031167-60031681	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr8:60029628-60033412	SK-N-SH	brain:	n/a	chr8:60030234-60030241
21	POLR2A	chr8:60029859-60032686	Raji	blood:	n/a	n/a
22	SIN3A	chr8:60029696-60031833	H1-hESC	embryonic stem cell:	n/a	chr8:60030604-60030617 chr8:60030698-60030709
23	RAD21	chr8:60031111-60031544	SK-N-SH_RA	brain:	n/a	chr8:60031311-60031324
24	RAD21	chr8:60029970-60031722	IMR90	lung:	n/a	chr8:60031311-60031324 chr8:60030601-60030614
25	POLR2A	chr8:60031138-60031539	ECC-1	luminal epithelium:	n/a	n/a
26	TAF1	chr8:60029879-60031839	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:60029907-60031642	HUVEC	blood vessel:	n/a	n/a
28	SIN3AK20	chr8:60030015-60031500	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr8:60031144-60031906	GM12892	blood:	n/a	n/a
30	RAD21	chr8:60030141-60031528	H1-hESC	embryonic stem cell:	n/a	chr8:60031311-60031324 chr8:60030601-60030614
31	POLR2A	chr8:60029804-60033039	GM18505	blood:	n/a	n/a
32	POLR2A	chr8:60031154-60032680	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:60031161-60031519	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:60031042-60031538	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr8:60030906-60032025	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr8:60031154-60031544	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr8:60030557-60031298	PFSK-1	brain:	n/a	n/a
38	CHD2	chr8:60031004-60031291	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:60029485-60031855	GM12892	blood:	n/a	n/a
40	ZBTB7A	chr8:60030862-60031209	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr8:60029808-60032733	GM15510	blood:	n/a	n/a
42	POLR2A	chr8:60029780-60032021	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr8:60031156-60031329	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995
45	POLR2A	chr8:60029558-60032008	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000167912	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3524312	chr8:60030498-60033446	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3524313	chr8:60030498-60033446	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3358496	chr8:60030823-60033771	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:60027600-60032600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
3	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:60027800-60032600	Active TSS	Fetal Thymus	thymus
5	chr8:60027800-60032800	Active TSS	Fetal Brain Male	brain
6	chr8:60028000-60032400	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:60028000-60033000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:60028200-60032600	Active TSS	Colon Smooth Muscle	Colon
9	chr8:60028400-60032600	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:60028400-60033000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:60028400-60033000	Active TSS	NH-A	brain
12	chr8:60028600-60032800	Active TSS	Thymus	Thymus
13	chr8:60029000-60032600	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:60029000-60032800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:60029000-60033200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:60029200-60032400	Active TSS	Brain Anterior Caudate	brain
17	chr8:60029200-60033000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:60029200-60033000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:60029200-60033200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:60029400-60032400	Active TSS	Dnd41	blood
21	chr8:60029400-60032600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:60029400-60033000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:60029600-60031200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr8:60029600-60031600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:60029600-60032400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:60029600-60033000	Active TSS	Fetal Kidney	kidney
27	chr8:60029600-60033000	Active TSS	NHDF-Ad	bronchial
28	chr8:60029800-60031200	Active TSS	Primary hematopoietic stem cells	blood
29	chr8:60029800-60031200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr8:60029800-60031400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr8:60029800-60031600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:60029800-60031600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr8:60029800-60032200	Active TSS	Lung	lung
34	chr8:60029800-60032400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:60029800-60032400	Active TSS	Right Ventricle	heart
36	chr8:60029800-60032400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr8:60029800-60032600	Active TSS	Small Intestine	intestine
38	chr8:60029800-60032800	Active TSS	Esophagus	oesophagus
39	chr8:60029800-60033000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:60029800-60033000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:60029800-60033000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:60029800-60033000	Active TSS	Primary T cells from cord blood	blood
43	chr8:60029800-60033000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:60029800-60033000	Active TSS	Right Atrium	heart
45	chr8:60029800-60033000	Active TSS	HSMM	muscle
46	chr8:60030000-60031200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:60030000-60031200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr8:60030000-60031200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr8:60030000-60031200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr8:60030000-60031400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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