Variant report

Variant	rs17002311
Chromosome Location	chr4:77904024-77904025
allele	A/T
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	IRF1	chr4:77903779-77904111	K562	blood:	n/a	chr4:77903922-77903935 chr4:77903921-77903932 chr4:77903917-77903938 chr4:77903920-77903934 chr4:77903922-77903933 chr4:77903919-77903933 chr4:77903923-77903933 chr4:77903922-77903934 chr4:77903917-77903934 chr4:77903922-77903934
2	IRF1	chr4:77903672-77904442	K562	blood:	n/a	chr4:77903922-77903935 chr4:77903921-77903932 chr4:77903917-77903938 chr4:77903920-77903934 chr4:77903922-77903933 chr4:77903919-77903933 chr4:77903923-77903933 chr4:77903922-77903934 chr4:77903917-77903934 chr4:77903922-77903934
3	UBTF	chr4:77903948-77904278	K562	blood:	n/a	n/a
4	CTCF	chr4:77904003-77904466	K562	blood:	n/a	n/a
5	CTCF	chr4:77903987-77904414	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:77904000-77904150	RPTEC	kidney:	n/a	n/a
7	TEAD4	chr4:77903667-77904490	K562	blood:	n/a	n/a
8	MYC	chr4:77903835-77904535	K562	blood:	n/a	n/a
9	GATA3	chr4:77903636-77904338	SK-N-SH	brain:	n/a	chr4:77903974-77903986 chr4:77903998-77904006 chr4:77903972-77903988 chr4:77903979-77903986
10	RCOR1	chr4:77903820-77904429	K562	blood:	n/a	n/a
11	RUNX3	chr4:77903734-77904168	GM12878	blood:	n/a	chr4:77903961-77903970 chr4:77903961-77903970
12	GATA3	chr4:77903644-77904288	SK-N-SH	brain:	n/a	chr4:77903974-77903986 chr4:77903998-77904006 chr4:77903972-77903988 chr4:77903979-77903986
13	CEBPB	chr4:77903795-77904367	K562	blood:	n/a	chr4:77903795-77903808
14	CTCF	chr4:77903899-77904440	K562	blood:	n/a	n/a
15	CTCF	chr4:77903888-77904474	A549	lung:	n/a	n/a
16	JUND	chr4:77903802-77904438	K562	blood:	n/a	n/a
17	GATA3	chr4:77903831-77904074	T-47D	breast:	n/a	chr4:77903974-77903986 chr4:77903998-77904006 chr4:77903972-77903988 chr4:77903979-77903986
18	MAZ	chr4:77903898-77904326	K562	blood:	n/a	n/a
19	IRF1	chr4:77903665-77904273	K562	blood:	n/a	chr4:77903922-77903935 chr4:77903921-77903932 chr4:77903917-77903938 chr4:77903920-77903934 chr4:77903922-77903933 chr4:77903919-77903933 chr4:77903923-77903933 chr4:77903922-77903934 chr4:77903917-77903934 chr4:77903922-77903934
20	CTCF	chr4:77904020-77904170	HFF-Myc	foreskin:	n/a	n/a
21	RUNX3	chr4:77903799-77904126	GM12878	blood:	n/a	chr4:77903961-77903970 chr4:77903961-77903970
22	ZNF143	chr4:77904018-77904456	K562	blood:	n/a	n/a
23	EP300	chr4:77903842-77904269	K562	blood:	n/a	chr4:77904176-77904190
24	ARID3A	chr4:77903743-77904257	K562	blood:	n/a	n/a
25	GATA1	chr4:77903342-77904601	PBDE	blood:	n/a	chr4:77903974-77903986 chr4:77903998-77904006 chr4:77903972-77903988 chr4:77903979-77903986
26	CTCF	chr4:77904013-77904412	K562	blood:	n/a	n/a
27	MAX	chr4:77903928-77904102	K562	blood:	n/a	n/a
28	GATA1	chr4:77903877-77904117	PBDEFetal	blood:	n/a	chr4:77903974-77903986 chr4:77903998-77904006 chr4:77903972-77903988 chr4:77903979-77903986

No.	Distal block	Cell Line	Cell type
1	chr4:77897592..77900729-chr4:77901374..77904309,4	MCF-7	breast:
2	chr4:77902465..77905363-chr4:77905756..77910495,7	K562	blood:
3	chr4:77868707..77872167-chr4:77902986..77905769,6	K562	blood:
4	chr4:77903235..77905605-chr4:77996534..77999278,2	K562	blood:
5	chr4:77889376..77894977-chr4:77900561..77905998,5	MCF-7	breast:
6	chr4:77869656..77871410-chr4:77904017..77905794,3	MCF-7	breast:
7	chr4:77869178..77872250-chr4:77903931..77909073,6	MCF-7	breast:
8	chr4:77870667..77872257-chr4:77902863..77905769,2	K562	blood:
9	chr4:77903163..77904830-chr4:77906060..77907965,2	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000138758	Chromatin interaction
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10000055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10002970	1.00[AMR][1000 genomes]
rs10003222	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10006616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10013521	1.00[AMR][1000 genomes]
rs10017180	1.00[AMR][1000 genomes]
rs10017391	1.00[AMR][1000 genomes]
rs10024538	1.00[AMR][1000 genomes]
rs10049647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518161	1.00[AMR][1000 genomes]
rs17002303	1.00[AMR][1000 genomes]
rs17002313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17002323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28394586	1.00[AFR][1000 genomes]
rs28638241	1.00[AMR][1000 genomes]
rs28639925	1.00[AMR][1000 genomes]
rs28657683	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670872	1.00[AMR][1000 genomes]
rs28681642	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682963	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28697276	1.00[AMR][1000 genomes]
rs9307223	1.00[AMR][1000 genomes]
rs9884835	1.00[AMR][1000 genomes]
rs9991713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9992021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:77879600-77904200	Weak transcription	Gastric	stomach
3	chr4:77882200-77905200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:77884800-77904200	Weak transcription	Pancreas	Pancrea
5	chr4:77891200-77905600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:77891600-77907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:77891800-77905200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:77893000-77906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:77893200-77918800	Weak transcription	A549	lung
10	chr4:77894800-77904200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:77895200-77905600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:77896200-77905000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:77897800-77905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:77899000-77908400	Enhancers	Adipose Nuclei	Adipose
15	chr4:77899200-77907600	Enhancers	Placenta	Placenta
16	chr4:77899600-77904200	Weak transcription	Brain Anterior Caudate	brain
17	chr4:77899600-77904200	Enhancers	Osteobl	bone
18	chr4:77899600-77904400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:77899600-77905600	Genic enhancers	HSMM	muscle
20	chr4:77899600-77917000	Weak transcription	Colonic Mucosa	Colon
21	chr4:77899800-77904200	Weak transcription	Spleen	Spleen
22	chr4:77899800-77905800	Weak transcription	Aorta	Aorta
23	chr4:77899800-77906000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:77899800-77915200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:77900200-77905600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:77900200-77905600	Weak transcription	NHEK	skin
27	chr4:77900200-77906000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:77900400-77905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:77900600-77904400	Weak transcription	HMEC	breast
30	chr4:77900600-77905400	Weak transcription	Thymus	Thymus
31	chr4:77900600-77906000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:77900600-77909000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:77900800-77904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:77901200-77904200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:77901200-77904800	Enhancers	Small Intestine	intestine
36	chr4:77901400-77907000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:77901400-77908400	Enhancers	Fetal Muscle Leg	muscle
38	chr4:77901600-77904200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:77901600-77904400	Enhancers	NHLF	lung
40	chr4:77901600-77908400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:77901800-77904200	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:77901800-77904200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:77901800-77904200	Weak transcription	Psoas Muscle	Psoas
44	chr4:77901800-77904600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:77901800-77905400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:77901800-77905400	Genic enhancers	HSMMtube	muscle
47	chr4:77901800-77905600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:77901800-77905600	Enhancers	Fetal Lung	lung
49	chr4:77902000-77907200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:77902000-77908400	Enhancers	Duodenum Mucosa	Duodenum

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