Variant report

Variant	rs805143
Chromosome Location	chr5:9362871-9362872
allele	A/C
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	BATF	chr5:9362732-9363120	GM12878	blood:	n/a	chr5:9362951-9362959
2	SPI1	chr5:9362579-9363006	GM12891	blood:	n/a	n/a
3	EP300	chr5:9362725-9362930	GM12878	blood:	n/a	chr5:9362769-9362783
4	IRF4	chr5:9362612-9363501	GM12878	blood:	n/a	n/a
5	WRNIP1	chr5:9362869-9363069	GM12878	blood:	n/a	n/a
6	MTA3	chr5:9361778-9364108	GM12878	blood:	n/a	n/a
7	BCL3	chr5:9362614-9363450	GM12878	blood:	n/a	n/a
8	MEF2C	chr5:9362583-9363571	GM12878	blood:	n/a	chr5:9363284-9363301 chr5:9363322-9363336 chr5:9363324-9363335 chr5:9363317-9363338
9	STAT3	chr5:9362738-9362994	MCF10A-Er-Src	breast:	n/a	chr5:9362952-9362963
10	STAT5A	chr5:9362714-9363502	GM12878	blood:	n/a	chr5:9362952-9362963
11	EP300	chr5:9362645-9363411	GM12878	blood:	n/a	chr5:9362769-9362783 chr5:9363359-9363367
12	BCLAF1	chr5:9361799-9363834	GM12878	blood:	n/a	n/a
13	CUX1	chr5:9362652-9362925	GM12878	blood:	n/a	n/a
14	EP300	chr5:9362712-9363377	GM12878	blood:	n/a	chr5:9362769-9362783 chr5:9363359-9363367
15	TCF12	chr5:9362748-9363110	GM12878	blood:	n/a	chr5:9363035-9363042
16	ATF2	chr5:9362685-9363625	GM12878	blood:	n/a	n/a
17	POU2F2	chr5:9362726-9363002	GM12878	blood:	n/a	n/a
18	PAX5	chr5:9362743-9362904	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr5:9361844-9363539	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:9362730-9362980	GM12878	blood:	n/a	n/a
21	BATF	chr5:9362745-9363032	GM12878	blood:	n/a	chr5:9362951-9362959
22	NFATC1	chr5:9362658-9363551	GM12878	blood:	n/a	n/a
23	IKZF1	chr5:9361915-9363571	GM12878	blood:	n/a	n/a
24	RCOR1	chr5:9362646-9362995	GM12878	blood:	n/a	n/a
25	FOXM1	chr5:9361704-9363949	GM12878	blood:	n/a	n/a
26	SP1	chr5:9362595-9363498	GM12878	blood:	n/a	n/a
27	ATF2	chr5:9361779-9363766	GM12878	blood:	n/a	n/a
28	PAX5	chr5:9362736-9362873	GM12878	blood:	n/a	n/a
29	CEBPB	chr5:9361889-9363725	GM12878	blood:	n/a	n/a
30	MAZ	chr5:9361894-9363631	GM12878	blood:	n/a	n/a
31	EBF1	chr5:9361702-9363348	GM12878	blood:	n/a	chr5:9362666-9362676
32	BCL11A	chr5:9362618-9363042	GM12878	blood:	n/a	n/a
33	STAT5A	chr5:9362633-9363639	GM12878	blood:	n/a	chr5:9362952-9362963
34	NFIC	chr5:9361827-9363776	GM12878	blood:	n/a	n/a
35	FOXM1	chr5:9361777-9363664	GM12878	blood:	n/a	n/a
36	SP1	chr5:9362685-9363097	GM12878	blood:	n/a	n/a
37	NFATC1	chr5:9362563-9363475	GM12878	blood:	n/a	n/a
38	NFIC	chr5:9361810-9363765	GM12878	blood:	n/a	n/a
39	SPI1	chr5:9362700-9362893	GM12878	blood:	n/a	n/a
40	POU2F2	chr5:9362642-9363126	GM12878	blood:	n/a	n/a
41	SPI1	chr5:9362356-9363232	GM12878	blood:	n/a	n/a
42	BHLHE40	chr5:9362606-9363014	GM12878	blood:	n/a	n/a
43	PML	chr5:9362551-9363875	GM12878	blood:	n/a	n/a
44	MEF2A	chr5:9362555-9363571	GM12878	blood:	n/a	chr5:9363284-9363301 chr5:9363322-9363336 chr5:9363324-9363335 chr5:9363317-9363338
45	RUNX3	chr5:9361843-9363726	GM12878	blood:	n/a	n/a
46	EGR1	chr5:9362740-9362895	GM12878	blood:	n/a	chr5:9362825-9362847
47	EGR1	chr5:9362731-9362940	GM12878	blood:	n/a	chr5:9362825-9362847
48	SPI1	chr5:9362641-9362986	GM12878	blood:	n/a	n/a
49	PAX5	chr5:9362567-9363100	GM12878	blood:	n/a	n/a
50	SPI1	chr5:9362641-9363057	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248537	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10071408	1.00[JPT][hapmap]
rs10491236	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11745486	1.00[JPT][hapmap]
rs16882488	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16882559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734151	1.00[JPT][hapmap]
rs3797996	0.86[ASN][1000 genomes]
rs3822788	1.00[JPT][hapmap]
rs4429819	1.00[JPT][hapmap]
rs4540155	1.00[JPT][hapmap]
rs6555601	1.00[JPT][hapmap]
rs6864327	1.00[JPT][hapmap]
rs6868377	1.00[JPT][hapmap]
rs765046	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv498044	chr5:9143754-9402870	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv530183	chr5:9146506-9413373	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9332800-9372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:9347000-9365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:9355200-9370200	Weak transcription	Pancreas	Pancrea
4	chr5:9357200-9377800	Weak transcription	Fetal Intestine Large	intestine
5	chr5:9357800-9363200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:9357800-9365800	Weak transcription	Brain Germinal Matrix	brain
7	chr5:9358000-9389400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:9358800-9363400	Weak transcription	Fetal Stomach	stomach
9	chr5:9358800-9369000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:9358800-9372400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:9359200-9365800	Weak transcription	Left Ventricle	heart
12	chr5:9359200-9382800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:9359400-9363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:9359600-9363800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:9359600-9372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:9359800-9363200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:9359800-9363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:9359800-9363400	Weak transcription	NHDF-Ad	bronchial
19	chr5:9359800-9372400	Weak transcription	Fetal Kidney	kidney
20	chr5:9360000-9363400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:9360200-9363000	Weak transcription	NH-A	brain
22	chr5:9360200-9363400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:9360400-9363000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:9360400-9363000	Weak transcription	Fetal Heart	heart
25	chr5:9360400-9363000	Weak transcription	NHLF	lung
26	chr5:9360400-9370200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:9361800-9363600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:9361800-9364000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:9362000-9363200	Enhancers	Osteobl	bone
30	chr5:9362000-9363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:9362000-9364000	Enhancers	Fetal Muscle Leg	muscle
32	chr5:9362000-9364600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:9362200-9363400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:9362200-9364200	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:9362200-9364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:9362200-9364200	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:9362400-9363400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:9362400-9363400	Weak transcription	Aorta	Aorta
39	chr5:9362400-9366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:9362600-9365600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:9362600-9365800	Weak transcription	Esophagus	oesophagus
42	chr5:9362800-9363000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr5:9362800-9363600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:9362800-9364200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:9362800-9365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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