Variant report

Variant	rs6863413
Chromosome Location	chr5:9144667-9144668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12189232	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519438	0.89[CEU][hapmap]
rs168817	0.81[CEU][hapmap]
rs1904454	0.89[CEU][hapmap];0.83[TSI][hapmap]
rs2256037	0.84[EUR][1000 genomes]
rs2456237	0.81[CEU][hapmap]
rs253633	0.85[CEU][hapmap]
rs253634	0.96[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs253635	0.85[CEU][hapmap]
rs253638	0.96[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs253644	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs253645	0.85[CEU][hapmap]
rs253646	0.85[CEU][hapmap]
rs253649	0.89[CEU][hapmap]
rs253652	0.89[CEU][hapmap]
rs6862429	0.89[CEU][hapmap]
rs886509	0.85[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	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
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9105200-9145000	Weak transcription	Osteobl	bone
2	chr5:9108800-9147600	Weak transcription	NHDF-Ad	bronchial
3	chr5:9119200-9153200	Weak transcription	Fetal Intestine Large	intestine
4	chr5:9119400-9151800	Weak transcription	Left Ventricle	heart
5	chr5:9119400-9152000	Weak transcription	Right Ventricle	heart
6	chr5:9119400-9152000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:9119600-9144800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:9132200-9147800	Weak transcription	NHLF	lung
9	chr5:9134000-9152000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:9134400-9156600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:9136600-9144800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:9136800-9144800	Weak transcription	Liver	Liver
13	chr5:9136800-9176400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
15	chr5:9137000-9151800	Weak transcription	Fetal Heart	heart
16	chr5:9137200-9144800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:9139800-9144800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:9141200-9154400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:9142200-9145200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:9143200-9144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:9143200-9145200	Weak transcription	Colonic Mucosa	Colon
22	chr5:9143600-9161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:9144000-9145000	ZNF genes & repeats	Lung	lung
24	chr5:9144000-9145200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:9144000-9145200	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:9144000-9145200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr5:9144000-9146400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:9144200-9147200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:9144400-9144800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:9144400-9145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:9144400-9147400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:9144600-9144800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:9144600-9144800	Strong transcription	Fetal Lung	lung
34	chr5:9144600-9145000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:9144600-9145000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:9144600-9145000	ZNF genes & repeats	Aorta	Aorta
37	chr5:9144600-9145000	ZNF genes & repeats	Esophagus	oesophagus
38	chr5:9144600-9145000	ZNF genes & repeats	Fetal Stomach	stomach
39	chr5:9144600-9145200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:9144600-9145400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:9144600-9145400	Strong transcription	Fetal Kidney	kidney
42	chr5:9144600-9145600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:9144600-9145600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:9144600-9145800	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr5:9144600-9146600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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