Variant report

Variant	rs550266054
Chromosome Location	chr8:61429664-61429665
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	REST	chr8:61429398-61429704	HepG2	liver:	n/a	n/a
2	CTCF	chr8:61429520-61429670	GM12871	blood:	n/a	n/a
3	TCF3	chr8:61429088-61430234	GM12878	blood:	n/a	n/a
4	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
5	POLR2A	chr8:61428943-61430095	A549	lung:	n/a	n/a
6	POLR2A	chr8:61429408-61430175	HepG2	liver:	n/a	n/a
7	TAF1	chr8:61429405-61429675	GM12878	blood:	n/a	n/a
8	HEY1	chr8:61428757-61430263	K562	blood:	n/a	chr8:61429518-61429533 chr8:61429411-61429426 chr8:61429478-61429493
9	MAX	chr8:61429003-61429769	A549	lung:	n/a	n/a
10	E2F4	chr8:61429497-61429696	GM12878	blood:	n/a	chr8:61429514-61429523
11	TBL1XR1	chr8:61429161-61430286	GM12878	blood:	n/a	n/a
12	TAF1	chr8:61429073-61430334	K562	blood:	n/a	n/a
13	POLR2A	chr8:61429077-61430326	K562	blood:	n/a	n/a
14	TAF1	chr8:61429411-61429842	GM12891	blood:	n/a	n/a
15	POLR2A	chr8:61428919-61430342	GM12892	blood:	n/a	n/a
16	CTCF	chr8:61429540-61429690	HMEC	breast:	n/a	n/a
17	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
18	POLR2A	chr8:61428945-61430245	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr8:61428935-61429818	SK-N-SH	brain:	n/a	n/a
20	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
21	MAZ	chr8:61428567-61430345	IMR90	lung:	n/a	n/a
22	CREB1	chr8:61429042-61430224	A549	lung:	n/a	n/a
23	MYC	chr8:61429410-61430210	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:61428938-61430272	ProgFib	skin:	n/a	n/a
25	IRF1	chr8:61429014-61429918	K562	blood:	n/a	chr8:61429513-61429527 chr8:61429342-61429356 chr8:61429045-61429058
26	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
27	CREB1	chr8:61428849-61430349	HepG2	liver:	n/a	n/a
28	BHLHE40	chr8:61429104-61429729	GM12878	blood:	n/a	chr8:61429480-61429496 chr8:61429524-61429540 chr8:61429477-61429493 chr8:61429558-61429574
29	POLR2A	chr8:61428841-61430327	Raji	blood:	n/a	n/a
30	TAF1	chr8:61429122-61430158	K562	blood:	n/a	n/a
31	POLR2A	chr8:61428962-61429720	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr8:61428934-61430189	K562	blood:	n/a	n/a
33	TAF1	chr8:61429407-61429763	GM12892	blood:	n/a	n/a
34	POLR2A	chr8:61429040-61430314	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
36	PML	chr8:61428972-61430190	K562	blood:	n/a	n/a
37	POLR2A	chr8:61429049-61430325	GM18526	blood:	n/a	n/a
38	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
39	POLR2A	chr8:61428983-61430241	K562	blood:	n/a	n/a
40	MAX	chr8:61428863-61430371	A549	lung:	n/a	n/a
41	TBP	chr8:61429141-61430844	HepG2	liver:	n/a	n/a
42	TAF1	chr8:61428884-61430177	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr8:61428929-61430364	U87	brain:	n/a	n/a
44	CREB1	chr8:61429430-61430188	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr8:61429407-61430946	HepG2	liver:	n/a	n/a
46	YY1	chr8:61429484-61430155	SK-N-SH	brain:	n/a	chr8:61429932-61429949 chr8:61429522-61429531 chr8:61429976-61429990
47	ELK1	chr8:61429221-61429716	GM12878	blood:	n/a	n/a
48	MXI1	chr8:61428929-61430766	Hela-S3	cervix:	n/a	n/a
49	FOXA1	chr8:61429278-61429692	HepG2	liver:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
2	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
3	chr2:241083676..241084259-chr8:61429550..61430124,2	HCT-116	colon:
4	chr1:156720075..156720930-chr8:61429122..61429936,2	Hela-S3	cervix:
5	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
6	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
7	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:

Variant related genes	Relation type
RAB2A	TF binding region
ENSG00000251396	TF binding region
ENSG00000178602	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000143294	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:127 , 50 per page) page: 1 2 3

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

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