Variant report

Variant	rs1868635
Chromosome Location	chr14:79747251-79747252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11627269	0.87[ASW][hapmap];0.88[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes]
rs11628045	0.91[EUR][1000 genomes]
rs1184263	0.90[CEU][hapmap]
rs12432262	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882688	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882872	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12884217	0.95[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs12888606	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17598373	0.90[CHD][hapmap]
rs2122434	0.92[CHD][hapmap]
rs2219846	0.88[CEU][hapmap];0.88[TSI][hapmap]
rs4359363	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs4899737	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs4899738	0.91[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs56711325	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7153957	0.88[CEU][hapmap]
rs7161543	0.87[ASW][hapmap];0.88[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs7492515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv528346	chr14:79683956-79747251	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79744800-79747600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:79744800-79747600	Bivalent/Poised TSS	A549	lung
3	chr14:79744800-79747800	Bivalent/Poised TSS	NHLF	lung
4	chr14:79744800-79748400	Bivalent/Poised TSS	HSMM	muscle
5	chr14:79744800-79748600	Active TSS	Right Atrium	heart
6	chr14:79745000-79748000	Active TSS	Aorta	Aorta
7	chr14:79745000-79749400	Active TSS	Osteobl	bone
8	chr14:79745200-79748600	Active TSS	Placenta Amnion	Placenta Amnion
9	chr14:79745200-79748600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr14:79745200-79749400	Active TSS	Colon Smooth Muscle	Colon
11	chr14:79745400-79753600	Active TSS	Stomach Smooth Muscle	stomach
12	chr14:79745600-79752000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:79746200-79748400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:79746400-79747400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:79746400-79748800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr14:79746600-79747400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:79746600-79747800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr14:79746600-79747800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr14:79746600-79747800	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr14:79746600-79748000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr14:79746600-79748400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:79746600-79748600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:79746600-79749200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:79746800-79747800	Active TSS	Brain Germinal Matrix	brain
25	chr14:79746800-79748800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr14:79746800-79749400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr14:79746800-79750200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr14:79747000-79747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:79747000-79747600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:79747000-79747800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:79747000-79748200	Weak transcription	Pancreas	Pancrea
32	chr14:79747000-79748400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:79747000-79748600	Weak transcription	Brain Angular Gyrus	brain
34	chr14:79747000-79748600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
35	chr14:79747000-79750000	Active TSS	Fetal Stomach	stomach
36	chr14:79747000-79750200	Active TSS	Rectal Smooth Muscle	rectum
37	chr14:79747200-79747400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr14:79747200-79747400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr14:79747200-79747400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:79747200-79747600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr14:79747200-79747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:79747200-79747600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:79747200-79747600	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:79747200-79747800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:79747200-79747800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:79747200-79747800	Bivalent/Poised TSS	Fetal Brain Male	brain
47	chr14:79747200-79747800	Enhancers	NHEK	skin
48	chr14:79747200-79748000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:79747200-79748400	Bivalent/Poised TSS	NH-A	brain
50	chr14:79747200-79748800	Active TSS	HSMMtube	muscle

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