Variant report

Variant	rs7725607
Chromosome Location	chr5:95171391-95171392
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	POLR2A	chr5:95171358-95171826	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:95169767-95172654	GM12891	blood:	n/a	n/a
3	MTA3	chr5:95171253-95171873	GM12878	blood:	n/a	n/a
4	STAT3	chr5:95171312-95171412	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:95171383-95171444	HepG2	liver:	n/a	n/a
6	CTCF	chr5:95170353-95171600	A549	lung:	n/a	chr5:95170850-95170863
7	NFIC	chr5:95169650-95171495	GM12878	blood:	n/a	n/a
8	IRF3	chr5:95171388-95171394	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:
2	chr5:95157133..95161008-chr5:95170364..95173601,6	MCF-7	breast:
3	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251000	TF binding region
ENSG00000175449	Chromatin interaction
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10069749	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10077757	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1047420	0.94[CHB][hapmap]
rs13361485	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361488	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2161313	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs248343	1.00[CHB][hapmap]
rs2547996	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35234911	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756704	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs3797206	0.86[ASN][1000 genomes]
rs4561	0.94[CHB][hapmap]
rs60868839	0.83[ASN][1000 genomes]
rs6556890	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873668	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6875489	0.88[ASN][1000 genomes]
rs7709560	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918469	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs918470	0.94[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs9314160	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs955688	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95161600-95171400	Weak transcription	Small Intestine	intestine
2	chr5:95164200-95171400	Weak transcription	Spleen	Spleen
3	chr5:95169800-95171400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:95169800-95171400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:95169800-95171400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:95169800-95171400	Active TSS	Right Ventricle	heart
7	chr5:95169800-95171600	Active TSS	Rectal Smooth Muscle	rectum
8	chr5:95169800-95171600	Active TSS	Stomach Smooth Muscle	stomach
9	chr5:95169800-95171800	Active TSS	Brain Cingulate Gyrus	brain
10	chr5:95170000-95171400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr5:95170000-95171400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:95170000-95171400	Active TSS	Right Atrium	heart
13	chr5:95170000-95171400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr5:95170000-95171400	Active TSS	GM12878-XiMat	blood
15	chr5:95170000-95172200	Active TSS	Psoas Muscle	Psoas
16	chr5:95170200-95171400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr5:95170200-95171400	Active TSS	Aorta	Aorta
18	chr5:95170200-95171400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:95170200-95171400	Active TSS	Colonic Mucosa	Colon
20	chr5:95170200-95171400	Active TSS	Fetal Thymus	thymus
21	chr5:95170200-95171400	Active TSS	NHDF-Ad	bronchial
22	chr5:95170200-95171600	Active TSS	Brain Angular Gyrus	brain
23	chr5:95170200-95171600	Active TSS	Fetal Intestine Large	intestine
24	chr5:95170200-95171800	Active TSS	Colon Smooth Muscle	Colon
25	chr5:95170200-95172000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:95170200-95172000	Flanking Active TSS	HUVEC	blood vessel
27	chr5:95170400-95171400	Active TSS	Esophagus	oesophagus
28	chr5:95170400-95171400	Active TSS	Fetal Intestine Small	intestine
29	chr5:95170400-95171400	Active TSS	Left Ventricle	heart
30	chr5:95170400-95171400	Active TSS	Pancreas	Pancrea
31	chr5:95170400-95171400	Active TSS	NHLF	lung
32	chr5:95170400-95171600	Active TSS	Liver	Liver
33	chr5:95170400-95171600	Active TSS	Brain Substantia Nigra	brain
34	chr5:95170400-95171800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:95170400-95172200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr5:95170600-95172200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:95170600-95172400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:95170600-95172600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:95170800-95171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:95170800-95171400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:95170800-95171400	Weak transcription	Gastric	stomach
42	chr5:95170800-95171400	Weak transcription	Lung	lung
43	chr5:95170800-95172000	Flanking Active TSS	Osteobl	bone
44	chr5:95170800-95172200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr5:95170800-95172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr5:95170800-95172400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:95171000-95171400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:95171000-95171400	Active TSS	Primary T cells fromperipheralblood	blood
49	chr5:95171000-95171400	Enhancers	HSMM	muscle
50	chr5:95171000-95171400	Enhancers	HSMMtube	muscle

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