Variant report

Variant	rs3785870
Chromosome Location	chr17:45366160-45366161
allele	C/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	REST	chr17:45365820-45366194	K562	blood:	n/a	n/a
2	TAF1	chr17:45365890-45366271	K562	blood:	n/a	n/a
3	CUX1	chr17:45365735-45366343	K562	blood:	n/a	n/a
4	CBX3	chr17:45365738-45366715	K562	blood:	n/a	n/a
5	TBL1XR1	chr17:45365626-45366290	K562	blood:	n/a	n/a
6	JUND	chr17:45365818-45366349	K562	blood:	n/a	n/a
7	TEAD4	chr17:45365742-45366614	K562	blood:	n/a	n/a
8	YY1	chr17:45365885-45366173	K562	blood:	n/a	n/a
9	EP300	chr17:45365879-45366301	K562	blood:	n/a	n/a
10	GATA1	chr17:45365305-45366630	PBDE	blood:	n/a	n/a
11	POLR2A	chr17:45365817-45366212	K562	blood:	n/a	n/a
12	RFX5	chr17:45365833-45366363	K562	blood:	n/a	n/a
13	TAF1	chr17:45365898-45366184	K562	blood:	n/a	n/a
14	MYC	chr17:45365824-45366524	K562	blood:	n/a	n/a
15	UBTF	chr17:45365848-45366302	K562	blood:	n/a	n/a
16	TAL1	chr17:45365833-45366586	K562	blood:	n/a	n/a
17	MAX	chr17:45365869-45366275	K562	blood:	n/a	n/a
18	EP300	chr17:45365667-45366331	K562	blood:	n/a	n/a
19	NR2F2	chr17:45365777-45366462	K562	blood:	n/a	n/a
20	MAFK	chr17:45365924-45366243	HepG2	liver:	n/a	chr17:45366071-45366086
21	TBL1XR1	chr17:45365749-45366380	K562	blood:	n/a	n/a
22	MAFF	chr17:45365935-45366208	HepG2	liver:	n/a	chr17:45366070-45366088
23	CCNT2	chr17:45365821-45366242	K562	blood:	n/a	n/a
24	POLR2A	chr17:45365809-45366297	K562	blood:	n/a	n/a
25	RCOR1	chr17:45365807-45366564	K562	blood:	n/a	n/a
26	HCFC1	chr17:45365903-45366358	K562	blood:	n/a	n/a
27	FOS	chr17:45365943-45366193	MCF10A-Er-Src	breast:	n/a	n/a
28	USF1	chr17:45365821-45366238	K562	blood:	n/a	n/a
29	MAFK	chr17:45365911-45366228	IMR90	lung:	n/a	chr17:45366071-45366086
30	GTF2B	chr17:45365916-45366257	K562	blood:	n/a	n/a
31	HMGN3	chr17:45365959-45366183	K562	blood:	n/a	n/a
32	REST	chr17:45365895-45366191	K562	blood:	n/a	n/a
33	POLR2A	chr17:45365840-45366190	K562	blood:	n/a	n/a
34	IRF1	chr17:45365872-45366388	K562	blood:	n/a	n/a
35	RCOR1	chr17:45365894-45366365	K562	blood:	n/a	n/a
36	FOSL1	chr17:45365831-45366322	K562	blood:	n/a	chr17:45366070-45366081
37	NFE2	chr17:45365889-45366265	K562	blood:	n/a	chr17:45366071-45366086
38	EGR1	chr17:45365774-45366281	K562	blood:	n/a	chr17:45366004-45366019 chr17:45366005-45366018 chr17:45366006-45366016 chr17:45366005-45366018 chr17:45366005-45366018 chr17:45366006-45366017 chr17:45366006-45366015 chr17:45366000-45366022 chr17:45366006-45366016 chr17:45366004-45366018 chr17:45366005-45366018
39	CHD2	chr17:45365858-45366328	K562	blood:	n/a	n/a
40	POLR2A	chr17:45365752-45366332	K562	blood:	n/a	n/a
41	JUN	chr17:45365848-45366261	K562	blood:	n/a	n/a
42	POLR2A	chr17:45365874-45366160	K562	blood:	n/a	n/a
43	ZC3H11A	chr17:45365823-45366286	K562	blood:	n/a	n/a
44	TEAD4	chr17:45365725-45366652	K562	blood:	n/a	n/a
45	EGR1	chr17:45365760-45366206	K562	blood:	n/a	chr17:45366004-45366019 chr17:45366005-45366018 chr17:45366006-45366016 chr17:45366005-45366018 chr17:45366005-45366018 chr17:45366006-45366017 chr17:45366006-45366015 chr17:45366000-45366022 chr17:45366006-45366016 chr17:45366004-45366018 chr17:45366005-45366018
46	MAX	chr17:45365755-45366653	K562	blood:	n/a	n/a
47	BACH1	chr17:45365789-45366406	K562	blood:	n/a	n/a
48	EGR1	chr17:45365659-45366326	HCT-116	colon:	n/a	chr17:45366004-45366019 chr17:45366005-45366018 chr17:45366006-45366016 chr17:45366005-45366018 chr17:45366005-45366018 chr17:45366006-45366017 chr17:45366006-45366015 chr17:45366000-45366022 chr17:45366006-45366016 chr17:45366004-45366018 chr17:45366005-45366018
49	NR2F2	chr17:45365689-45366735	K562	blood:	n/a	n/a
50	ATF3	chr17:45365818-45366313	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45361920..45363647-chr17:45365032..45367345,2	MCF-7	breast:
2	chr17:45142997..45145121-chr17:45364801..45366332,2	K562	blood:
3	chr17:45286379..45287904-chr17:45364557..45366498,2	K562	blood:
4	chr17:45266080..45267919-chr17:45364841..45367496,2	K562	blood:
5	chr17:45363175..45368028-chr17:45369299..45373237,4	K562	blood:
6	chr17:45332159..45334737-chr17:45364459..45366214,2	K562	blood:
7	chr17:45360332..45367497-chr17:45367923..45374401,11	K562	blood:

Variant related genes	Relation type
ITGB3	TF binding region
ENSG00000198336	Chromatin interaction
ENSG00000262879	Chromatin interaction
ENSG00000004897	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11079771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11867192	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11867253	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11867589	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11868344	0.86[ASN][1000 genomes]
rs11869439	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11869487	1.00[CEU][hapmap]
rs11869768	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11869835	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870252	0.86[ASN][1000 genomes]
rs11870334	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870781	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870948	1.00[CEU][hapmap]
rs11871031	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11871477	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051664	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051702	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051709	1.00[CEU][hapmap]
rs12051795	1.00[CEU][hapmap]
rs12162128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941751	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16941771	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16941855	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16941861	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1878067	0.88[CHB][hapmap]
rs2292700	0.87[CHB][hapmap]
rs2317676	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3785873	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41304764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55706706	0.86[ASN][1000 genomes]
rs56722403	0.86[ASN][1000 genomes]
rs5919	0.87[CHB][hapmap]
rs73322309	0.84[ASN][1000 genomes]
rs8073229	0.87[CHB][hapmap]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
2	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
4	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
5	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
6	chr17:45358200-45367600	Weak transcription	Adipose Nuclei	Adipose
7	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
8	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
12	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
15	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
16	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
17	chr17:45361400-45370000	Strong transcription	Aorta	Aorta
18	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr17:45361800-45367400	Strong transcription	Placenta	Placenta
20	chr17:45361800-45368200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45362800-45370800	Weak transcription	HUVEC	blood vessel
22	chr17:45363000-45366600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45363200-45368000	Weak transcription	Liver	Liver
24	chr17:45363600-45366200	Enhancers	Primary B cells from cord blood	blood
25	chr17:45363800-45366400	Strong transcription	Fetal Heart	heart
26	chr17:45364000-45366400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:45364200-45366600	Genic enhancers	Osteobl	bone
28	chr17:45364400-45371800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:45364600-45369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:45364800-45367600	Weak transcription	Spleen	Spleen
31	chr17:45365000-45366400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45365000-45366400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:45365600-45366400	Enhancers	Hela-S3	cervix
34	chr17:45365800-45366200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45365800-45366200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr17:45365800-45366200	Enhancers	HMEC	breast
37	chr17:45365800-45366200	Enhancers	HSMM	muscle
38	chr17:45365800-45366200	Enhancers	HSMMtube	muscle
39	chr17:45365800-45366200	Genic enhancers	NHDF-Ad	bronchial
40	chr17:45365800-45366400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:45365800-45366400	Enhancers	Ovary	ovary
42	chr17:45365800-45366400	Enhancers	Stomach Mucosa	stomach
43	chr17:45365800-45366400	Enhancers	A549	lung
44	chr17:45365800-45366400	Enhancers	NHLF	lung
45	chr17:45365800-45366600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:45365800-45366600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr17:45365800-45366600	Enhancers	NH-A	brain
48	chr17:45365800-45370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:45366000-45366200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:45366000-45366200	Enhancers	Skeletal Muscle Female	skeletal muscle

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