Variant report

Variant	rs17012170
Chromosome Location	chr4:87860844-87860845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:87860692-87861639	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:87860654-87861474	GM12892	blood:	n/a	n/a
3	POLR2A	chr4:87860676-87861349	GM12892	blood:	n/a	n/a
4	ZNF384	chr4:87860816-87861443	GM12878	blood:	n/a	n/a
5	PAX5	chr4:87860833-87861208	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr4:87860774-87860924	K562	blood:	n/a	n/a
7	CHD1	chr4:87860148-87861127	GM12878	blood:	n/a	n/a
8	ZEB1	chr4:87860827-87861123	GM12878	blood:	n/a	chr4:87860930-87860939
9	POLR2A	chr4:87860830-87861390	GM12891	blood:	n/a	n/a
10	CHD2	chr4:87860813-87861270	GM12878	blood:	n/a	n/a
11	POU2F2	chr4:87860774-87861400	GM12891	blood:	n/a	n/a
12	EBF1	chr4:87860746-87861228	GM12878	blood:	n/a	n/a
13	EP300	chr4:87860737-87861509	GM12878	blood:	n/a	n/a
14	EP300	chr4:87860788-87861237	GM12878	blood:	n/a	n/a
15	RELA	chr4:87860392-87861533	GM12878	blood:	n/a	n/a
16	MXI1	chr4:87860267-87861248	GM12878	blood:	n/a	chr4:87860671-87860680
17	POLR2A	chr4:87860656-87861476	GM18505	blood:	n/a	n/a
18	POLR2A	chr4:87860785-87861237	GM12891	blood:	n/a	n/a
19	STAT3	chr4:87860833-87861227	GM12878	blood:	n/a	n/a
20	MAZ	chr4:87860399-87861299	GM12878	blood:	n/a	chr4:87860671-87860681 chr4:87860671-87860682 chr4:87860672-87860681
21	FOXM1	chr4:87860630-87861547	GM12878	blood:	n/a	n/a
22	STAT5A	chr4:87860765-87861407	GM12878	blood:	n/a	n/a
23	BCLAF1	chr4:87860616-87861590	GM12878	blood:	n/a	n/a
24	RELA	chr4:87860799-87861434	GM19193	blood:	n/a	n/a
25	PML	chr4:87860666-87861616	GM12878	blood:	n/a	n/a
26	POU2F2	chr4:87860801-87861347	GM12878	blood:	n/a	n/a
27	MEF2A	chr4:87860617-87861386	GM12878	blood:	n/a	chr4:87860708-87860729
28	ZNF143	chr4:87860772-87861149	GM12878	blood:	n/a	n/a
29	SP1	chr4:87860755-87861254	GM12878	blood:	n/a	n/a
30	EP300	chr4:87860763-87861355	GM12878	blood:	n/a	n/a
31	POU2F2	chr4:87860736-87861386	GM12878	blood:	n/a	n/a
32	MTA3	chr4:87860076-87862059	GM12878	blood:	n/a	n/a
33	TCF3	chr4:87860732-87861292	GM12878	blood:	n/a	n/a
34	STAT5A	chr4:87860642-87861587	GM12878	blood:	n/a	n/a
35	FOXM1	chr4:87860585-87861687	GM12878	blood:	n/a	n/a
36	IKZF1	chr4:87860734-87861570	GM12878	blood:	n/a	n/a
37	RCOR1	chr4:87860339-87861406	GM12878	blood:	n/a	n/a
38	TCF12	chr4:87860772-87861315	GM12878	blood:	n/a	n/a
39	BATF	chr4:87860762-87861248	GM12878	blood:	n/a	n/a
40	ELF1	chr4:87860733-87861266	GM12878	blood:	n/a	n/a
41	RUNX3	chr4:87860716-87861570	GM12878	blood:	n/a	n/a
42	PAX5	chr4:87860758-87861409	GM12878	blood:	n/a	n/a
43	CUX1	chr4:87860657-87861375	GM12878	blood:	n/a	n/a
44	SIN3A	chr4:87860771-87861179	GM12878	blood:	n/a	n/a
45	RELA	chr4:87860739-87861717	GM15510	blood:	n/a	n/a
46	TAF1	chr4:87860813-87861264	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:87859852-87861095	MCF10A-Er-Src	breast:	n/a	n/a
48	BCL11A	chr4:87860777-87861267	GM12878	blood:	n/a	n/a
49	RELA	chr4:87860731-87861585	GM10847	blood:	n/a	n/a
50	RELA	chr4:87860765-87861407	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87859835..87862279-chr4:87865985..87868737,2	MCF-7	breast:
2	chr4:87860517..87862879-chr4:87877524..87879606,2	K562	blood:
3	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
4	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
5	chr4:87860293..87862516-chr4:87877340..87879546,2	MCF-7	breast:
6	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:

No data

Variant related genes	Relation type
C4orf36	TF binding region
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10015639	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs10050311	0.92[CEU][hapmap]
rs1010902	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1010903	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10516785	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs10516786	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11097124	0.84[EUR][1000 genomes]
rs1447994	0.83[EUR][1000 genomes]
rs17012200	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012213	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012216	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012234	0.80[ASN][1000 genomes]
rs17694112	0.85[CEU][hapmap]
rs17751427	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17751557	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17752307	0.81[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1985944	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2053771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2287147	0.85[CEU][hapmap]
rs4693153	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4693154	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4693795	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693801	0.81[ASN][1000 genomes]
rs55698195	0.89[EUR][1000 genomes]
rs55831707	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55851914	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55879154	0.80[ASN][1000 genomes]
rs55913164	0.85[ASN][1000 genomes]
rs56201068	0.89[EUR][1000 genomes]
rs61651372	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6531941	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs72667703	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72667705	0.90[EUR][1000 genomes]
rs72667716	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72667721	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72667724	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72667727	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72667735	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667736	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667737	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667739	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667741	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667747	0.81[ASN][1000 genomes]
rs72667748	0.81[ASN][1000 genomes]
rs72667750	0.81[ASN][1000 genomes]
rs7665282	0.80[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs767315	0.82[JPT][hapmap]
rs7682652	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs7695426	0.81[ASN][1000 genomes]

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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87856600-87861600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:87856800-87861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:87857400-87861600	Flanking Active TSS	Dnd41	blood
4	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
5	chr4:87857800-87861000	Weak transcription	Left Ventricle	heart
6	chr4:87857800-87861400	Weak transcription	Brain Angular Gyrus	brain
7	chr4:87857800-87867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:87857800-87880200	Weak transcription	HSMM	muscle
9	chr4:87858000-87861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:87858000-87861000	Weak transcription	NH-A	brain
11	chr4:87858000-87867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:87858200-87861000	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:87858200-87861600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:87858200-87861600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:87858200-87862000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:87858200-87866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:87858400-87861400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:87858600-87861400	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:87858600-87862000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:87858600-87862400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr4:87858600-87862400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:87858600-87863200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:87858600-87864800	Enhancers	Fetal Thymus	thymus
25	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:87858800-87861000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:87858800-87864400	Enhancers	Liver	Liver
28	chr4:87859000-87861400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:87859000-87861600	Enhancers	Colon Smooth Muscle	Colon
30	chr4:87859000-87862200	Enhancers	Fetal Intestine Small	intestine
31	chr4:87859000-87864400	Enhancers	Fetal Intestine Large	intestine
32	chr4:87859200-87861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:87859200-87865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:87859400-87861400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:87859400-87861600	Enhancers	Small Intestine	intestine
36	chr4:87859600-87861800	Enhancers	NHEK	skin
37	chr4:87859800-87861000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:87859800-87861000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr4:87859800-87861200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:87859800-87861200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:87859800-87861200	Enhancers	A549	lung
42	chr4:87859800-87861200	Flanking Active TSS	HUVEC	blood vessel
43	chr4:87859800-87861400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:87859800-87861400	Enhancers	Brain Anterior Caudate	brain
45	chr4:87859800-87861400	Flanking Active TSS	K562	blood
46	chr4:87859800-87861400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:87859800-87861600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:87859800-87861600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:87859800-87861600	Enhancers	Brain Hippocampus Middle	brain
50	chr4:87859800-87861600	Flanking Active TSS	Hela-S3	cervix

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