Variant report

Variant	rs253651
Chromosome Location	chr5:9116125-9116126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1013720	0.83[CEU][hapmap];0.81[TSI][hapmap]
rs1013721	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs11739714	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11741669	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11743952	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11954325	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16882062	0.92[EUR][1000 genomes]
rs16882073	1.00[CEU][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs16882076	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16882083	0.92[EUR][1000 genomes]
rs16882086	0.92[EUR][1000 genomes]
rs16882093	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17237642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17309608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2428656	1.00[JPT][hapmap]
rs2619925	1.00[JPT][hapmap]
rs55784938	0.92[EUR][1000 genomes]
rs55989322	0.92[EUR][1000 genomes]
rs58610951	0.92[EUR][1000 genomes]
rs62342336	0.92[EUR][1000 genomes]
rs62342337	0.92[EUR][1000 genomes]
rs6555593	1.00[CEU][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs6865778	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6883525	1.00[CEU][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs6884247	0.92[EUR][1000 genomes]
rs7724468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899576	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv830200	chr5:9081023-9269495	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv880683	chr5:9091164-9170323	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv881682	chr5:9100211-9151237	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv880323	chr5:9100211-9157454	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv597070	chr5:9100211-9280338	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
2	chr5:9105000-9119000	Weak transcription	Spleen	Spleen
3	chr5:9105200-9120400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:9105200-9145000	Weak transcription	Osteobl	bone
5	chr5:9105400-9118600	Weak transcription	Fetal Stomach	stomach
6	chr5:9108000-9123200	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:9108400-9118800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:9108400-9135800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:9108600-9118600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:9108600-9118600	Weak transcription	Right Ventricle	heart
11	chr5:9108600-9119000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:9108600-9131800	Weak transcription	NHLF	lung
13	chr5:9108800-9147600	Weak transcription	NHDF-Ad	bronchial
14	chr5:9111000-9118400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:9112600-9117200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:9112800-9119400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:9112800-9126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:9113200-9118800	Weak transcription	Esophagus	oesophagus
19	chr5:9113400-9116200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr5:9113600-9118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:9113800-9116200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:9114000-9119200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:9114600-9116400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:9114600-9117400	Strong transcription	Liver	Liver
25	chr5:9114800-9119200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:9115000-9116200	Strong transcription	Pancreas	Pancrea
27	chr5:9115000-9116400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:9115000-9116400	Strong transcription	Fetal Muscle Leg	muscle
29	chr5:9115000-9116600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:9115000-9117600	Strong transcription	Fetal Heart	heart
31	chr5:9115000-9123200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:9115200-9116400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:9115200-9116400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr5:9115200-9119400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:9115600-9116200	Weak transcription	HMEC	breast
36	chr5:9115600-9116400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:9115600-9119400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:9115800-9116400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:9115800-9116400	ZNF genes & repeats	Aorta	Aorta
40	chr5:9115800-9118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:9116000-9116400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:9116000-9116400	Strong transcription	Fetal Intestine Small	intestine
43	chr5:9116000-9117200	Weak transcription	Left Ventricle	heart
44	chr5:9116000-9117200	Weak transcription	Dnd41	blood
45	chr5:9116000-9117600	Strong transcription	Fetal Lung	lung
46	chr5:9116000-9118800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:9116000-9144600	Weak transcription	Fetal Kidney	kidney

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