Variant report

Variant	rs374612760
Chromosome Location	chr8:61428874-61428875
allele	-/GAGTAGCTGG
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	POLR2A	chr8:61428755-61429047	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr8:61428757-61430263	K562	blood:	n/a	chr8:61429518-61429533 chr8:61429411-61429426 chr8:61429478-61429493
3	YY1	chr8:61428746-61430299	K562	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
4	MAZ	chr8:61428567-61430345	IMR90	lung:	n/a	n/a
5	CREB1	chr8:61428849-61430349	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:61428858-61429362	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:61428841-61430327	Raji	blood:	n/a	n/a
8	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
9	MAX	chr8:61428863-61430371	A549	lung:	n/a	n/a
10	CBX3	chr8:61428742-61429316	K562	blood:	n/a	n/a
11	GTF3C2	chr8:61428700-61429206	Hela-S3	cervix:	n/a	n/a
12	MTA3	chr8:61428751-61429366	GM12878	blood:	n/a	n/a
13	RUNX3	chr8:61428769-61429357	GM12878	blood:	n/a	n/a
14	YY1	chr8:61428707-61429975	SK-N-SH_RA	brain:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429064-61429074 chr8:61429477-61429491
15	MAX	chr8:61428759-61430729	A549	lung:	n/a	chr8:61430492-61430501
16	YY1	chr8:61428709-61430278	GM12878	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
17	CEBPB	chr8:61428865-61429092	A549	lung:	n/a	n/a
18	POLR2A	chr8:61428807-61430311	GM12892	blood:	n/a	n/a
19	YY1	chr8:61428773-61430306	HepG2	liver:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
20	MAX	chr8:61428859-61430275	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:61428804-61430013	PANC-1	pancreas:	n/a	n/a
22	SIN3AK20	chr8:61428852-61430796	MCF-7	breast:	n/a	n/a
23	HCFC1	chr8:61428762-61430332	Hela-S3	cervix:	n/a	n/a
24	YY1	chr8:61428539-61430330	SK-N-SH	brain:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
25	POLR2A	chr8:61428724-61430198	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:61428585-61430878	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:61428768-61429408	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:61428812-61430640	K562	blood:	n/a	n/a
29	MXI1	chr8:61428747-61431095	IMR90	lung:	n/a	n/a
30	MAX	chr8:61428853-61430319	K562	blood:	n/a	n/a
31	POLR2A	chr8:61428837-61430518	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:61428769-61430575	K562	blood:	n/a	n/a
33	MAX	chr8:61428780-61431065	HepG2	liver:	n/a	chr8:61430492-61430501
34	POLR2A	chr8:61428823-61430664	Hela-S3	cervix:	n/a	n/a
35	RFX5	chr8:61428838-61429655	Hela-S3	cervix:	n/a	chr8:61429281-61429294
36	ELF1	chr8:61428752-61430416	GM12878	blood:	n/a	chr8:61429498-61429507 chr8:61429511-61429520 chr8:61429522-61429531 chr8:61429512-61429524 chr8:61429484-61429496 chr8:61429478-61429490 chr8:61429844-61429856 chr8:61429335-61429347 chr8:61429497-61429508
37	TAF1	chr8:61428859-61429987	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr8:61428870-61429369	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr8:61428857-61430308	GM12878	blood:	n/a	n/a
40	YY1	chr8:61428845-61430187	K562	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
41	REST	chr8:61428865-61430501	H1-neurons	neurons:	n/a	chr8:61429985-61429998 chr8:61429714-61429732
42	TEAD4	chr8:61428839-61429346	K562	blood:	n/a	n/a
43	YY1	chr8:61428860-61430257	GM12878	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
44	MAX	chr8:61428871-61430341	ECC-1	luminal epithelium:	n/a	n/a
45	YY1	chr8:61428776-61430245	GM12892	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
46	MAX	chr8:61428758-61430381	HCT-116	colon:	n/a	n/a
47	SMARCB1	chr8:61428852-61430315	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr8:61428871-61430335	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:61428863-61430189	GM12878	blood:	n/a	n/a
50	TCF12	chr8:61428663-61429526	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
2	chr15:41221068..41222014-chr8:61428824..61429617,2	Hela-S3	cervix:
3	chr8:61419134..61423375-chr8:61426566..61429459,5	K562	blood:
4	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
5	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
6	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:

Variant related genes	Relation type
RAB2A	TF binding region
ENSG00000171316	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000251396	Chromatin interaction

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3398933	chr8:61428423-61431271	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3368567	chr8:61428748-61430846	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:61428200-61429000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:61428200-61429600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:61428400-61429000	Flanking Active TSS	Osteobl	bone
5	chr8:61428400-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
7	chr8:61428400-61430800	Active TSS	HMEC	breast
8	chr8:61428400-61430800	Active TSS	NHEK	skin
9	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:61428400-61431400	Active TSS	A549	lung
12	chr8:61428400-61431400	Active TSS	NHLF	lung
13	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
14	chr8:61428600-61429000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:61428600-61429000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr8:61428600-61429000	Flanking Active TSS	Placenta	Placenta
17	chr8:61428600-61429000	Flanking Active TSS	NH-A	brain
18	chr8:61428600-61429200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr8:61428600-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:61428600-61429200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:61428600-61429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:61428600-61430400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:61428600-61430400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:61428600-61430400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:61428600-61430600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:61428600-61430600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel
28	chr8:61428600-61431000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:61428600-61431200	Active TSS	Fetal Intestine Small	intestine
30	chr8:61428600-61431200	Active TSS	Hela-S3	cervix
31	chr8:61428600-61431200	Active TSS	K562	blood
32	chr8:61428600-61431400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:61428600-61431400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:61428600-61431400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:61428600-61432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:61428600-61432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
39	chr8:61428800-61429000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:61428800-61429000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:61428800-61429000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr8:61428800-61429000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:61428800-61429000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:61428800-61429000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr8:61428800-61429000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:61428800-61429000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:61428800-61429000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr8:61428800-61429000	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr8:61428800-61429000	Flanking Active TSS	Pancreas	Pancrea
50	chr8:61428800-61429000	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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