Variant report

Variant	rs17011016
Chromosome Location	chr4:86749306-86749307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11942119	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499386	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs12500124	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs12504839	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs12504871	0.83[ASN][1000 genomes]
rs12512001	0.83[ASN][1000 genomes]
rs17010960	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs17011065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs345364	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345365	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345370	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4693741	0.84[ASN][1000 genomes]
rs4693742	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693744	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66596399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66681569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67579023	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67631333	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67886916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658238	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86745600-86749400	Enhancers	HUVEC	blood vessel
3	chr4:86745800-86749400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:86747000-86749400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:86747200-86749400	Enhancers	Fetal Lung	lung
6	chr4:86747200-86749800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:86747400-86749400	Enhancers	Colon Smooth Muscle	Colon
8	chr4:86747400-86749800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:86747800-86749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:86747800-86749600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:86747800-86749600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:86747800-86749600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:86747800-86749800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:86747800-86752600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:86748000-86750000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:86748400-86749600	Flanking Active TSS	Osteobl	bone
17	chr4:86748600-86749400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:86748600-86749400	Active TSS	Brain Anterior Caudate	brain
19	chr4:86748600-86749400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:86748600-86749400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:86748600-86749400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:86748600-86749400	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr4:86748600-86749400	Active TSS	Pancreas	Pancrea
24	chr4:86748600-86749400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:86748600-86749400	Active TSS	Right Ventricle	heart
26	chr4:86748600-86749400	Flanking Active TSS	HSMM	muscle
27	chr4:86748600-86749400	Flanking Active TSS	HSMMtube	muscle
28	chr4:86748600-86749400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr4:86748600-86749400	Flanking Active TSS	NHLF	lung
30	chr4:86748600-86749600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:86748600-86749600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:86748600-86749600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:86748600-86749600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:86748600-86749600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr4:86748600-86749600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr4:86748600-86749600	Flanking Active TSS	HMEC	breast
37	chr4:86748600-86749600	Flanking Active TSS	NH-A	brain
38	chr4:86748600-86749800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:86748600-86749800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:86748600-86749800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr4:86748600-86749800	Active TSS	Right Atrium	heart
42	chr4:86748600-86749800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr4:86748600-86749800	Active TSS	A549	lung
44	chr4:86748600-86750000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:86748600-86750000	Active TSS	Fetal Muscle Trunk	muscle
46	chr4:86748600-86750200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:86748600-86750200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:86748600-86750600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:86748800-86749400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:86748800-86749400	Enhancers	H9 Cell Line	embryonic stem cell

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