Variant report

Variant	rs17001636
Chromosome Location	chr4:77120898-77120899
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	TBL1XR1	chr4:77120741-77121499	GM12878	blood:	n/a	n/a
2	CHD2	chr4:77120724-77121358	GM12878	blood:	n/a	chr4:77121265-77121272
3	RAD21	chr4:77120737-77121186	H1-hESC	embryonic stem cell:	n/a	chr4:77121042-77121061 chr4:77120871-77120883 chr4:77120869-77120888 chr4:77121043-77121057 chr4:77120934-77120947 chr4:77121046-77121055
4	YY1	chr4:77120763-77121185	GM12878	blood:	n/a	chr4:77120992-77121003 chr4:77121041-77121060 chr4:77121047-77121055
5	BCL11A	chr4:77120770-77121107	GM12878	blood:	n/a	n/a
6	STAT5A	chr4:77120729-77121088	GM12878	blood:	n/a	chr4:77120885-77120896
7	ATF2	chr4:77119476-77121237	GM12878	blood:	n/a	n/a
8	MXI1	chr4:77120674-77121257	GM12878	blood:	n/a	n/a
9	MTA3	chr4:77120553-77121489	GM12878	blood:	n/a	n/a
10	RUNX3	chr4:77120690-77121401	GM12878	blood:	n/a	n/a
11	RAD21	chr4:77120864-77121164	GM12878	blood:	n/a	chr4:77121042-77121061 chr4:77120871-77120883 chr4:77120869-77120888 chr4:77121043-77121057 chr4:77120934-77120947 chr4:77121046-77121055
12	RAD21	chr4:77120814-77121193	GM12878	blood:	n/a	chr4:77121042-77121061 chr4:77120871-77120883 chr4:77120869-77120888 chr4:77121043-77121057 chr4:77120934-77120947 chr4:77121046-77121055
13	REST	chr4:77120830-77121013	Hela-S3	cervix:	n/a	n/a
14	FOXM1	chr4:77120548-77121296	GM12878	blood:	n/a	n/a
15	YY1	chr4:77120639-77121217	GM12878	blood:	n/a	chr4:77120992-77121003 chr4:77121041-77121060 chr4:77121047-77121055
16	PML	chr4:77120600-77121371	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:77120620-77121275	GM12892	blood:	n/a	n/a
18	BATF	chr4:77120757-77121122	GM12878	blood:	n/a	n/a
19	CTCF	chr4:77120880-77121030	GM12869	blood:	n/a	n/a
20	EBF1	chr4:77120764-77121327	GM12878	blood:	n/a	n/a
21	BCL11A	chr4:77120708-77121133	GM12878	blood:	n/a	n/a
22	IRF4	chr4:77120664-77121261	GM12878	blood:	n/a	n/a
23	POU2F2	chr4:77120720-77121366	GM12891	blood:	n/a	chr4:77121006-77121014 chr4:77121003-77121018 chr4:77121001-77121019 chr4:77121004-77121015 chr4:77121005-77121015
24	ATF2	chr4:77120499-77121437	GM12878	blood:	n/a	n/a
25	SPI1	chr4:77120776-77121087	GM12878	blood:	n/a	n/a
26	MAZ	chr4:77120694-77121212	GM12878	blood:	n/a	n/a
27	CEBPB	chr4:77120779-77121126	GM12878	blood:	n/a	n/a
28	EP300	chr4:77119136-77121422	GM12878	blood:	n/a	chr4:77120044-77120058
29	SPI1	chr4:77120731-77121118	GM12891	blood:	n/a	n/a
30	EBF1	chr4:77120649-77121412	GM12878	blood:	n/a	n/a
31	EBF1	chr4:77120627-77121540	GM12878	blood:	n/a	n/a
32	POU2F2	chr4:77120656-77121277	GM12891	blood:	n/a	chr4:77121006-77121014 chr4:77121003-77121018 chr4:77121001-77121019 chr4:77121004-77121015 chr4:77121005-77121015
33	BCL3	chr4:77120735-77121183	GM12878	blood:	n/a	n/a
34	BHLHE40	chr4:77120674-77121459	GM12878	blood:	n/a	n/a
35	BCLAF1	chr4:77120532-77121349	GM12878	blood:	n/a	n/a
36	PAX5	chr4:77120586-77121437	GM12878	blood:	n/a	n/a
37	CHD1	chr4:77119329-77121096	GM12878	blood:	n/a	n/a
38	MEF2A	chr4:77120565-77121357	GM12878	blood:	n/a	n/a
39	CTCF	chr4:77120827-77121295	GM12878	blood:	n/a	chr4:77120873-77120886 chr4:77120871-77120889 chr4:77121041-77121059 chr4:77120866-77120887
40	BCLAF1	chr4:77120683-77121214	GM12878	blood:	n/a	n/a
41	STAT3	chr4:77120734-77121237	GM12878	blood:	n/a	chr4:77120885-77120896
42	SPI1	chr4:77120715-77121140	GM12891	blood:	n/a	n/a
43	NFATC1	chr4:77120611-77121305	GM12878	blood:	n/a	n/a
44	RUNX3	chr4:77120613-77121402	GM12878	blood:	n/a	n/a
45	SRF	chr4:77120853-77121057	GM12878	blood:	n/a	n/a
46	POU2F2	chr4:77120721-77121379	GM12878	blood:	n/a	chr4:77121006-77121014 chr4:77121003-77121018 chr4:77121001-77121019 chr4:77121004-77121015 chr4:77121005-77121015
47	ZNF143	chr4:77120694-77121218	GM12878	blood:	n/a	n/a
48	ZNF143	chr4:77120874-77121060	H1-hESC	embryonic stem cell:	n/a	n/a
49	IKZF1	chr4:77120653-77121513	GM12878	blood:	n/a	chr4:77121301-77121313
50	PBX3	chr4:77120782-77121021	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77118780..77124053-chr4:77134347..77137767,5	MCF-7	breast:
2	chr4:77118894..77122374-chr4:77129647..77132337,3	K562	blood:
3	chr4:77120877..77123601-chr4:77133534..77136298,3	MCF-7	breast:
4	chr4:77114541..77118897-chr4:77119397..77123368,6	K562	blood:
5	chr4:77118497..77121388-chr4:77227077..77230082,4	MCF-7	breast:
6	chr4:77119760..77123050-chr4:77133589..77135332,3	K562	blood:

Variant related genes	Relation type
SCARB2	TF binding region
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000118804	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17001354	1.00[AMR][1000 genomes]
rs17001355	1.00[AMR][1000 genomes]
rs17001359	1.00[AMR][1000 genomes]
rs17001362	1.00[AMR][1000 genomes]
rs17001366	1.00[AMR][1000 genomes]
rs17001367	1.00[AMR][1000 genomes]
rs17001596	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001619	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001626	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001627	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001639	1.00[AMR][1000 genomes]
rs55998455	1.00[AMR][1000 genomes]
rs56252973	1.00[AMR][1000 genomes]
rs56350100	1.00[AMR][1000 genomes]
rs56653729	1.00[AMR][1000 genomes]
rs57415085	1.00[AMR][1000 genomes]
rs58605269	1.00[AMR][1000 genomes]
rs60337837	1.00[AMR][1000 genomes]
rs60367545	1.00[AMR][1000 genomes]
rs60885790	1.00[AMR][1000 genomes]
rs61347786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61606865	1.00[AMR][1000 genomes]
rs73825715	1.00[AMR][1000 genomes]
rs73825720	1.00[AMR][1000 genomes]
rs73825882	1.00[AMR][1000 genomes]
rs73826307	1.00[AMR][1000 genomes]
rs73826308	1.00[AMR][1000 genomes]
rs73826312	1.00[AMR][1000 genomes]
rs73826315	1.00[AMR][1000 genomes]
rs73826333	1.00[AMR][1000 genomes]
rs73826378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73826380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73826385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73826388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7661525	1.00[AMR][1000 genomes]
rs7685216	1.00[AMR][1000 genomes]

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	esv1799666	chr4:77119942-77129568	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77113200-77134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:77113600-77134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:77114200-77122400	Enhancers	Right Ventricle	heart
4	chr4:77114600-77121000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:77114600-77122000	Enhancers	HMEC	breast
6	chr4:77114800-77122800	Enhancers	Psoas Muscle	Psoas
7	chr4:77115200-77122200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:77115400-77122600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:77116200-77122400	Enhancers	Pancreas	Pancrea
10	chr4:77116200-77122400	Enhancers	Right Atrium	heart
11	chr4:77116600-77122600	Enhancers	Fetal Thymus	thymus
12	chr4:77116800-77122200	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:77117000-77122800	Enhancers	Small Intestine	intestine
14	chr4:77117000-77134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:77117200-77121400	Enhancers	Spleen	Spleen
16	chr4:77117200-77129200	Enhancers	Liver	Liver
17	chr4:77117400-77122600	Enhancers	Thymus	Thymus
18	chr4:77117400-77132800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:77117600-77121000	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:77117800-77122200	Enhancers	NHDF-Ad	bronchial
21	chr4:77117800-77122400	Enhancers	Left Ventricle	heart
22	chr4:77117800-77122800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:77118000-77121400	Enhancers	Aorta	Aorta
24	chr4:77118000-77122000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:77118000-77122400	Enhancers	Fetal Heart	heart
26	chr4:77118200-77121000	Enhancers	Primary B cells from cord blood	blood
27	chr4:77118200-77121600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:77118200-77122600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:77118400-77121800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:77118400-77122000	Enhancers	Primary T cells from cord blood	blood
31	chr4:77118600-77121000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:77118600-77121200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:77118600-77121200	Enhancers	Fetal Muscle Trunk	muscle
34	chr4:77118600-77121800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:77118600-77122400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:77118800-77121800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr4:77118800-77122000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:77118800-77122200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:77118800-77122400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr4:77118800-77122400	Enhancers	Fetal Stomach	stomach
41	chr4:77118800-77122600	Enhancers	Fetal Muscle Leg	muscle
42	chr4:77118800-77123000	Enhancers	Stomach Mucosa	stomach
43	chr4:77118800-77124200	Enhancers	Fetal Intestine Large	intestine
44	chr4:77118800-77125400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:77119000-77121400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:77119000-77121400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:77119000-77121600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:77119000-77121600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:77119200-77121000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:77119200-77121400	Enhancers	HUES48 Cell Line	embryonic stem cell

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