Variant report

Variant	rs7585737
Chromosome Location	chr2:31442622-31442623
allele	G/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	SPI1	chr2:31441749-31443090	GM12878	blood:	n/a	chr2:31442258-31442271
2	ATF2	chr2:31441886-31442907	GM12878	blood:	n/a	n/a
3	BCLAF1	chr2:31441899-31442872	GM12878	blood:	n/a	n/a
4	PAX5	chr2:31442384-31442860	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:31441900-31442892	GM12878	blood:	n/a	n/a
6	RUNX3	chr2:31442389-31442834	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:31441827-31442852	GM12878	blood:	n/a	n/a
8	EBF1	chr2:31441783-31442837	GM12878	blood:	n/a	chr2:31441951-31441964 chr2:31441953-31441962 chr2:31441953-31441962
9	FOXM1	chr2:31441871-31442798	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:31442030-31442843	GM12892	blood:	n/a	n/a
11	PML	chr2:31441861-31442963	GM12878	blood:	n/a	n/a
12	MTA3	chr2:31441843-31442927	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr2:31441962-31442921	GM12878	blood:	n/a	n/a
14	SMC3	chr2:31441924-31442861	GM12878	blood:	n/a	chr2:31441931-31441941
15	WRNIP1	chr2:31442189-31442870	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:31441929-31442889	GM12892	blood:	n/a	n/a
17	MTA3	chr2:31441996-31442910	GM12878	blood:	n/a	n/a
18	FOXM1	chr2:31442393-31442873	GM12878	blood:	n/a	n/a
19	BATF	chr2:31442483-31442746	GM12878	blood:	n/a	n/a
20	EP300	chr2:31441872-31442944	GM12878	blood:	n/a	n/a
21	EBF1	chr2:31442402-31442768	GM12878	blood:	n/a	n/a
22	CUX1	chr2:31442021-31442892	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:31441837-31442901	GM12892	blood:	n/a	n/a
24	POU2F2	chr2:31442444-31442836	GM12891	blood:	n/a	n/a
25	TCF3	chr2:31441867-31442730	GM12878	blood:	n/a	chr2:31441972-31441985
26	EBF1	chr2:31441824-31442824	GM12878	blood:	n/a	chr2:31441951-31441964 chr2:31441953-31441962 chr2:31441953-31441962
27	SPI1	chr2:31442465-31442801	GM12878	blood:	n/a	n/a
28	SPI1	chr2:31442416-31442919	GM12878	blood:	n/a	n/a
29	EP300	chr2:31442466-31442894	GM12878	blood:	n/a	n/a
30	SPI1	chr2:31442297-31442941	GM12891	blood:	n/a	n/a
31	BATF	chr2:31442515-31442799	GM12878	blood:	n/a	n/a
32	ZNF143	chr2:31442473-31442773	GM12878	blood:	n/a	n/a
33	SPI1	chr2:31442354-31442902	GM12891	blood:	n/a	n/a
34	IRF4	chr2:31442392-31442884	GM12878	blood:	n/a	n/a
35	PAX5	chr2:31442421-31442831	GM12878	blood:	n/a	n/a
36	SPI1	chr2:31442432-31442770	HL-60	blood:	n/a	n/a
37	STAT1	chr2:31442518-31442699	GM12878	blood:	n/a	n/a
38	NFIC	chr2:31441829-31442895	GM12878	blood:	n/a	n/a
39	CHD2	chr2:31441888-31442844	GM12878	blood:	n/a	n/a
40	REST	chr2:31442526-31442716	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr2:31441950-31442867	GM12878	blood:	n/a	n/a
42	PAX5	chr2:31441830-31442906	GM12878	blood:	n/a	n/a
43	PAX5	chr2:31442476-31442747	GM12878	blood:	n/a	n/a
44	SPI1	chr2:31442404-31442943	HL-60	blood:	n/a	n/a
45	NFIC	chr2:31441841-31442863	GM12878	blood:	n/a	n/a
46	IKZF1	chr2:31441952-31443007	GM12878	blood:	n/a	n/a
47	CEBPB	chr2:31442574-31442749	A549	lung:	n/a	n/a
48	PAX5	chr2:31442424-31442835	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31437754..31439740-chr2:31441574..31443729,2	MCF-7	breast:

Variant related genes	Relation type
CAPN14	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10204574	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs11124248	0.87[JPT][hapmap]
rs11124255	0.81[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs11680892	0.86[ASN][1000 genomes]
rs11681503	0.82[ASN][1000 genomes]
rs11681673	0.82[ASN][1000 genomes]
rs12619774	0.88[JPT][hapmap]
rs12623398	0.87[JPT][hapmap]
rs1373219	0.81[ASN][1000 genomes]
rs17011001	0.87[JPT][hapmap]
rs4952068	0.95[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs4952069	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7591444	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7585737	EHD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
2	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:31439400-31443000	Enhancers	Fetal Thymus	thymus
5	chr2:31440400-31443400	Enhancers	Esophagus	oesophagus
6	chr2:31441000-31443200	Enhancers	Stomach Mucosa	stomach
7	chr2:31441200-31443000	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:31441200-31443800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:31441200-31449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31442000-31442800	Enhancers	Spleen	Spleen
11	chr2:31442000-31443000	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:31442200-31443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:31442400-31442800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:31442400-31444400	Weak transcription	Fetal Heart	heart
15	chr2:31442600-31442800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:31442600-31443400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:31442600-31444200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:31442600-31444400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:31442600-31444600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:31442600-31446400	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:31442600-31447000	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links