Variant report

Variant	rs6891705
Chromosome Location	chr5:79434487-79434488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79427801..79430494-chr5:79434272..79436282,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12518629	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176625	1.00[JPT][hapmap]
rs1470025	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2164993	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35700898	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4703800	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703802	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704615	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4704617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704619	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6893919	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs725172	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
2	chr5:79419600-79435200	Weak transcription	Liver	Liver
3	chr5:79420800-79437000	Weak transcription	Lung	lung
4	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
5	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
9	chr5:79423400-79437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79424200-79437000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:79424200-79437200	Weak transcription	NHEK	skin
12	chr5:79424400-79436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:79424400-79437000	Weak transcription	Osteobl	bone
14	chr5:79424800-79437200	Weak transcription	HSMM	muscle
15	chr5:79424800-79438600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:79425000-79436600	Weak transcription	HSMMtube	muscle
17	chr5:79425200-79437200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:79425200-79437200	Weak transcription	Placenta	Placenta
19	chr5:79425400-79435800	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:79425400-79436600	Weak transcription	Fetal Kidney	kidney
21	chr5:79425400-79438400	Weak transcription	HepG2	liver
22	chr5:79427200-79435400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:79427400-79438400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:79428600-79437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:79428800-79438800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:79429000-79438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:79429200-79436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:79429600-79435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:79430600-79434800	Enhancers	Primary B cells from cord blood	blood
30	chr5:79430800-79435600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:79430800-79436600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:79431000-79435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:79431000-79435400	Weak transcription	Fetal Lung	lung
34	chr5:79431000-79437000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:79431000-79437000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:79431200-79435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:79431200-79435400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:79431200-79436600	Weak transcription	Brain Substantia Nigra	brain
39	chr5:79431200-79437400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:79431400-79435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:79431400-79436400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:79431400-79436800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:79431600-79435400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:79431600-79436400	Weak transcription	Fetal Heart	heart
45	chr5:79431600-79436600	Weak transcription	Adipose Nuclei	Adipose
46	chr5:79431600-79437000	Weak transcription	Right Atrium	heart
47	chr5:79432000-79435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:79432000-79435400	Weak transcription	Spleen	Spleen
49	chr5:79432000-79436800	Weak transcription	Brain Anterior Caudate	brain
50	chr5:79432000-79437000	Weak transcription	Left Ventricle	heart

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