Variant report

Variant	rs528091626
Chromosome Location	chr8:61429387-61429388
allele	-/GCGGG
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	TCF3	chr8:61429088-61430234	GM12878	blood:	n/a	n/a
2	EP300	chr8:61429360-61429692	T-47D	breast:	n/a	chr8:61429476-61429485 chr8:61429479-61429488 chr8:61429498-61429505 chr8:61429485-61429494 chr8:61429621-61429634 chr8:61429477-61429486 chr8:61429630-61429646
3	POLR2A	chr8:61428943-61430095	A549	lung:	n/a	n/a
4	POU2F2	chr8:61429175-61429408	GM12878	blood:	n/a	n/a
5	HEY1	chr8:61428757-61430263	K562	blood:	n/a	chr8:61429518-61429533 chr8:61429411-61429426 chr8:61429478-61429493
6	MAX	chr8:61429003-61429769	A549	lung:	n/a	n/a
7	TBL1XR1	chr8:61429161-61430286	GM12878	blood:	n/a	n/a
8	TAF1	chr8:61429073-61430334	K562	blood:	n/a	n/a
9	POLR2A	chr8:61429077-61430326	K562	blood:	n/a	n/a
10	POLR2A	chr8:61428919-61430342	GM12892	blood:	n/a	n/a
11	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
12	POLR2A	chr8:61428945-61430245	HUVEC	blood vessel:	n/a	n/a
13	MXI1	chr8:61429256-61429627	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr8:61428935-61429818	SK-N-SH	brain:	n/a	n/a
15	SP1	chr8:61428899-61429868	A549	lung:	n/a	chr8:61429518-61429530 chr8:61429513-61429525 chr8:61429115-61429127 chr8:61429344-61429356 chr8:61429514-61429523 chr8:61429116-61429130 chr8:61429345-61429354 chr8:61429513-61429525 chr8:61429116-61429126 chr8:61429515-61429524 chr8:61429117-61429126 chr8:61429344-61429356
16	MAZ	chr8:61428567-61430345	IMR90	lung:	n/a	n/a
17	CREB1	chr8:61429042-61430224	A549	lung:	n/a	n/a
18	POLR2A	chr8:61428938-61430272	ProgFib	skin:	n/a	n/a
19	IRF1	chr8:61429014-61429918	K562	blood:	n/a	chr8:61429513-61429527 chr8:61429342-61429356 chr8:61429045-61429058
20	YY1	chr8:61429149-61430020	ECC-1	luminal epithelium:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429477-61429491
21	CREB1	chr8:61428849-61430349	HepG2	liver:	n/a	n/a
22	BHLHE40	chr8:61429104-61429729	GM12878	blood:	n/a	chr8:61429480-61429496 chr8:61429524-61429540 chr8:61429477-61429493 chr8:61429558-61429574
23	POLR2A	chr8:61428841-61430327	Raji	blood:	n/a	n/a
24	NANOG	chr8:61429131-61429522	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr8:61429122-61430158	K562	blood:	n/a	n/a
26	POLR2A	chr8:61428962-61429720	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr8:61428934-61430189	K562	blood:	n/a	n/a
28	POLR2A	chr8:61429040-61430314	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
30	PML	chr8:61428972-61430190	K562	blood:	n/a	n/a
31	POLR2A	chr8:61429049-61430325	GM18526	blood:	n/a	n/a
32	ELF1	chr8:61429306-61429725	A549	lung:	n/a	chr8:61429498-61429507 chr8:61429511-61429520 chr8:61429522-61429531 chr8:61429512-61429524 chr8:61429484-61429496 chr8:61429478-61429490 chr8:61429335-61429347 chr8:61429497-61429508
33	POLR2A	chr8:61428983-61430241	K562	blood:	n/a	n/a
34	MAX	chr8:61428863-61430371	A549	lung:	n/a	n/a
35	TBP	chr8:61429141-61430844	HepG2	liver:	n/a	n/a
36	TAF1	chr8:61428884-61430177	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr8:61428929-61430364	U87	brain:	n/a	n/a
38	POLR2A	chr8:61429118-61429401	HepG2	liver:	n/a	n/a
39	ETS1	chr8:61428995-61429395	A549	lung:	n/a	n/a
40	ELK1	chr8:61429221-61429716	GM12878	blood:	n/a	n/a
41	MXI1	chr8:61428929-61430766	Hela-S3	cervix:	n/a	n/a
42	FOXA1	chr8:61429278-61429692	HepG2	liver:	n/a	n/a
43	ELF1	chr8:61429209-61430280	SK-N-SH	brain:	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
44	POLR2A	chr8:61429054-61429779	HepG2	liver:	n/a	n/a
45	PAX5	chr8:61429169-61429580	GM12891	blood:	n/a	n/a
46	POLR2A	chr8:61429010-61429809	HUVEC	blood vessel:	n/a	n/a
47	MAX	chr8:61429094-61430642	K562	blood:	n/a	chr8:61430492-61430501
48	POLR2A	chr8:61428924-61429802	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr8:61429077-61430223	HEK293	kidney:	n/a	n/a
50	ELF1	chr8:61429052-61430371	MCF-7	breast:	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

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	chr1:156720075..156720930-chr8:61429122..61429936,2	Hela-S3	cervix:
4	chr8:61419134..61423375-chr8:61426566..61429459,5	K562	blood:
5	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
6	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
7	chr11:62572548..62573069-chr8:61428935..61429617,2	Hela-S3	cervix:
8	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:

Variant related genes	Relation type
RAB2A	TF binding region
ENSG00000251396	TF binding region
ENSG00000162231	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000143294	Chromatin interaction
ENSG00000171316	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61428200-61429600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
4	chr8:61428400-61430800	Active TSS	HMEC	breast
5	chr8:61428400-61430800	Active TSS	NHEK	skin
6	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:61428400-61431400	Active TSS	A549	lung
9	chr8:61428400-61431400	Active TSS	NHLF	lung
10	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
11	chr8:61428600-61429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:61428600-61430400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:61428600-61430400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:61428600-61430400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:61428600-61430600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:61428600-61430600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel
18	chr8:61428600-61431000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:61428600-61431200	Active TSS	Fetal Intestine Small	intestine
20	chr8:61428600-61431200	Active TSS	Hela-S3	cervix
21	chr8:61428600-61431200	Active TSS	K562	blood
22	chr8:61428600-61431400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:61428600-61431400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:61428600-61431400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:61428600-61432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61428600-61432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
29	chr8:61428800-61429600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:61428800-61429600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:61428800-61429600	Active TSS	Brain Germinal Matrix	brain
32	chr8:61428800-61430200	Active TSS	Primary B cells from cord blood	blood
33	chr8:61428800-61430200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr8:61428800-61430400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:61428800-61430400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:61428800-61430400	Active TSS	Primary T cells from cord blood	blood
37	chr8:61428800-61430400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr8:61428800-61430400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr8:61428800-61430400	Active TSS	Brain Angular Gyrus	brain
40	chr8:61428800-61430400	Active TSS	Brain Anterior Caudate	brain
41	chr8:61428800-61430400	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:61428800-61430400	Active TSS	Fetal Brain Female	brain
43	chr8:61428800-61430400	Active TSS	Fetal Thymus	thymus
44	chr8:61428800-61430400	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:61428800-61430600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:61428800-61430600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:61428800-61430600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:61428800-61430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:61428800-61430600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:61428800-61430600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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