Variant report

Variant	rs77593609
Chromosome Location	chr8:126452628-126452629
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	CEBPB	chr8:126451435-126453300	HCT-116	colon:	n/a	n/a
2	POLR2A	chr8:126451360-126452652	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:126451437-126453693	HL-60	blood:	n/a	n/a
4	JUND	chr8:126451409-126453313	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:126440811-126453303	HCT-116	colon:	n/a	n/a
6	POLR2A	chr8:126443517-126453304	HepG2	liver:	n/a	n/a
7	SPI1	chr8:126452538-126452658	K562	blood:	n/a	n/a
8	FOSL1	chr8:126451441-126453353	HCT-116	colon:	n/a	n/a
9	POLR2A	chr8:126451679-126453299	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:126451676-126453099	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr8:126451643-126453320	GM12892	blood:	n/a	n/a
12	POLR2A	chr8:126449545-126452900	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr8:126451413-126453303	HCT-116	colon:	n/a	chr8:126452445-126452456
14	SP1	chr8:126451404-126453333	HCT-116	colon:	n/a	n/a
15	POLR2A	chr8:126440867-126453568	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:126441360-126452957	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:126451742-126452743	U87	brain:	n/a	n/a
18	POLR2A	chr8:126451681-126452728	HUVEC	blood vessel:	n/a	n/a
19	SIN3AK20	chr8:126451417-126452983	HCT-116	colon:	n/a	n/a
20	SPI1	chr8:126451631-126453314	HL-60	blood:	n/a	n/a
21	POLR2A	chr8:126451732-126453121	GM12878	blood:	n/a	n/a
22	EBF1	chr8:126452546-126452758	GM12878	blood:	n/a	chr8:126452671-126452682 chr8:126452673-126452682 chr8:126452673-126452682 chr8:126452672-126452682
23	RAD21	chr8:126451740-126453206	IMR90	lung:	n/a	n/a
24	MYC	chr8:126452541-126452713	MCF10A-Er-Src	breast:	n/a	n/a
25	SIN3AK20	chr8:126451498-126453347	HCT-116	colon:	n/a	n/a
26	MAX	chr8:126451479-126453254	HCT-116	colon:	n/a	chr8:126452445-126452456
27	POLR2A	chr8:126443504-126453314	A549	lung:	n/a	n/a
28	CBX3	chr8:126451425-126453375	HCT-116	colon:	n/a	n/a
29	POLR2A	chr8:126451647-126452910	HCT-116	colon:	n/a	n/a
30	POLR2A	chr8:126451558-126453433	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:126451705-126452841	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr8:126451698-126453343	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr8:126451421-126453364	HCT-116	colon:	n/a	n/a
34	POLR2A	chr8:126449286-126453223	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:126451764-126453189	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:126451421-126453714	HL-60	blood:	n/a	n/a
37	ELF1	chr8:126451427-126453026	HCT-116	colon:	n/a	chr8:126452598-126452609
38	POLR2A	chr8:126451655-126452938	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126450829..126453336-chr8:126485586..126487093,2	MCF-7	breast:
2	chr8:126202921..126205556-chr8:126450247..126452721,2	K562	blood:
3	chr8:126452402..126454551-chr8:126832949..126835244,2	K562	blood:

Variant related genes	Relation type
RN7SL590P	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328739	chr8:126452520-126454568	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126447000-126458800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126448000-126453400	Weak transcription	Stomach Mucosa	stomach
3	chr8:126448600-126457800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:126448600-126458600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:126449000-126459000	Weak transcription	HSMM	muscle
6	chr8:126449200-126457200	Weak transcription	Fetal Heart	heart
7	chr8:126449400-126452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:126449400-126453000	Weak transcription	Gastric	stomach
9	chr8:126449400-126458600	Weak transcription	Esophagus	oesophagus
10	chr8:126450600-126453200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:126450600-126457600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:126450600-126463800	Weak transcription	Hela-S3	cervix
13	chr8:126450800-126452800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:126450800-126452800	Weak transcription	Thymus	Thymus
15	chr8:126450800-126453000	Weak transcription	Aorta	Aorta
16	chr8:126450800-126453200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:126450800-126454600	Weak transcription	Pancreas	Pancrea
18	chr8:126450800-126457000	Weak transcription	K562	blood
19	chr8:126450800-126457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:126450800-126457400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:126450800-126457600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:126450800-126457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:126450800-126458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:126450800-126458600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:126450800-126458800	Weak transcription	Fetal Stomach	stomach
26	chr8:126451000-126452800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:126451000-126454400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:126451000-126454600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:126451000-126457000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:126451000-126457400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:126451000-126457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:126451000-126458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:126451000-126462400	Weak transcription	Liver	Liver
34	chr8:126451200-126452800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:126451200-126452800	Weak transcription	Fetal Intestine Large	intestine
36	chr8:126451200-126452800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:126451200-126452800	Weak transcription	HUVEC	blood vessel
38	chr8:126451200-126454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:126451200-126458200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:126451400-126453000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:126451400-126453000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:126451600-126452800	Enhancers	A549	lung
43	chr8:126451600-126453000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:126451600-126453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:126451600-126453200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:126451600-126457600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:126451800-126452800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:126451800-126452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:126451800-126452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:126451800-126452800	Enhancers	Left Ventricle	heart

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