Variant report

Variant	rs6833862
Chromosome Location	chr4:69923096-69923097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10452447	0.84[EUR][1000 genomes]
rs12640790	0.83[MEX][hapmap];0.89[TSI][hapmap]
rs12645107	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs12648462	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17146872	0.85[EUR][1000 genomes]
rs17146900	0.81[EUR][1000 genomes]
rs17147077	0.83[EUR][1000 genomes]
rs17520029	0.81[EUR][1000 genomes]
rs1824266	0.83[EUR][1000 genomes]
rs1841050	0.84[EUR][1000 genomes]
rs1841051	0.84[EUR][1000 genomes]
rs1841054	0.85[EUR][1000 genomes]
rs1973106	0.86[EUR][1000 genomes]
rs2018024	0.84[EUR][1000 genomes]
rs2290764	0.84[EUR][1000 genomes]
rs2290765	0.82[EUR][1000 genomes]
rs35470687	0.84[EUR][1000 genomes]
rs4326076	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4336293	0.89[EUR][1000 genomes]
rs4377651	0.85[TSI][hapmap]
rs4438816	0.83[MEX][hapmap];0.89[TSI][hapmap]
rs4472206	0.92[EUR][1000 genomes]
rs4479775	0.81[MEX][hapmap]
rs4593203	0.88[MEX][hapmap];0.89[TSI][hapmap]
rs4604120	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4694487	0.83[EUR][1000 genomes]
rs55725814	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57520789	0.83[EUR][1000 genomes]
rs57631654	0.83[EUR][1000 genomes]
rs57955338	0.91[EUR][1000 genomes]
rs58016259	0.84[EUR][1000 genomes]
rs58077880	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58174838	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58655780	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58878867	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59300882	0.81[EUR][1000 genomes]
rs59449984	0.83[EUR][1000 genomes]
rs59728350	0.84[EUR][1000 genomes]
rs59970425	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61021826	0.84[EUR][1000 genomes]
rs61162302	0.98[EUR][1000 genomes]
rs61174505	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61235442	0.83[EUR][1000 genomes]
rs61416981	0.84[EUR][1000 genomes]
rs6823903	0.83[MEX][hapmap]
rs6857759	0.88[MEX][hapmap];0.89[TSI][hapmap]
rs72851317	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72851318	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72851322	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72851362	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72851371	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72851378	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72851379	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72852429	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72852498	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72853561	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72853597	0.90[EUR][1000 genomes]
rs72855408	0.88[EUR][1000 genomes]
rs72855411	0.88[EUR][1000 genomes]
rs73826069	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7438042	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7660744	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7671480	0.83[MEX][hapmap];0.92[TSI][hapmap]
rs7677390	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69917600-69923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:69919400-69923200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:69919600-69923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69919600-69924000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:69920600-69923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:69920600-69923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:69920600-69923400	Weak transcription	Pancreas	Pancrea
8	chr4:69920800-69923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:69921200-69923400	Weak transcription	Stomach Mucosa	stomach
10	chr4:69921400-69923200	Weak transcription	Osteobl	bone
11	chr4:69922600-69925000	Enhancers	Fetal Intestine Large	intestine
12	chr4:69922800-69923200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:69922800-69923200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:69922800-69923200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr4:69922800-69923200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:69922800-69923200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:69922800-69923200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:69922800-69923200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:69922800-69923600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:69922800-69923600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:69922800-69924000	Enhancers	HSMMtube	muscle
22	chr4:69922800-69924200	Enhancers	HSMM	muscle
23	chr4:69922800-69924800	Flanking Active TSS	Liver	Liver
24	chr4:69922800-69925000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:69923000-69923200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:69923000-69923200	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:69923000-69923400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:69923000-69923400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:69923000-69923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:69923000-69923400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:69923000-69923400	Enhancers	Fetal Intestine Small	intestine
32	chr4:69923000-69923600	Flanking Active TSS	GM12878-XiMat	blood
33	chr4:69923000-69923800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:69923000-69923800	Active TSS	Fetal Kidney	kidney
35	chr4:69923000-69924000	Enhancers	A549	lung
36	chr4:69923000-69924600	Flanking Active TSS	HepG2	liver
37	chr4:69923000-69924800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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