Variant report

Variant	rs2256569
Chromosome Location	chr5:9160380-9160381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12519438	0.81[CHB][hapmap]
rs13179890	0.83[ASN][1000 genomes]
rs1806097	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1806101	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1806102	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1806135	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1806136	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1806151	0.85[ASN][1000 genomes]
rs1904454	0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs2256567	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526118	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526119	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2526120	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2526121	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2526122	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs253649	0.82[CHB][hapmap]
rs253652	0.81[CHB][hapmap]
rs2619916	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619917	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2619919	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2619921	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2619922	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2619923	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2619924	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2619926	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6862429	0.81[CHB][hapmap]
rs899575	0.91[CEU][hapmap]
rs899576	0.91[CEU][hapmap]
rs984425	0.91[CEU][hapmap]
rs988592	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs988593	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
12	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
13	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
14	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9136800-9176400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
3	chr5:9143600-9161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:9145200-9160800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:9145400-9163200	Weak transcription	Fetal Kidney	kidney
6	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:9151000-9169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:9151200-9168800	Weak transcription	NH-A	brain
9	chr5:9152400-9171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:9153800-9183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:9154800-9170200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:9154800-9173400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:9154800-9176200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:9154800-9176400	Weak transcription	Aorta	Aorta
16	chr5:9155000-9161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:9155000-9174200	Weak transcription	Liver	Liver
18	chr5:9156800-9166600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:9156800-9171400	Weak transcription	Fetal Stomach	stomach
20	chr5:9157200-9164600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:9157400-9167000	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:9157600-9176400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:9157800-9161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:9157800-9168200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:9158000-9162800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:9158000-9165600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:9158000-9167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:9159200-9163200	Weak transcription	Fetal Heart	heart
29	chr5:9159400-9161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:9159600-9162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:9160200-9160400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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