Variant report

Variant	rs6600865
Chromosome Location	chr4:69923622-69923623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10012215	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10012240	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10012607	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10021748	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10030220	0.94[ASN][1000 genomes]
rs11725519	0.94[ASN][1000 genomes]
rs12501837	0.94[ASN][1000 genomes]
rs12509175	0.92[ASN][1000 genomes]
rs12648808	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648830	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13102620	0.94[ASN][1000 genomes]
rs13116752	0.94[ASN][1000 genomes]
rs13127081	0.92[ASN][1000 genomes]
rs13140844	0.94[ASN][1000 genomes]
rs13147569	0.94[ASN][1000 genomes]
rs13147648	0.94[ASN][1000 genomes]
rs2292524	0.87[ASN][1000 genomes]
rs28775401	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28801471	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3922514	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235108	0.92[ASN][1000 genomes]
rs4235111	0.94[ASN][1000 genomes]
rs4235112	0.94[ASN][1000 genomes]
rs4235113	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235114	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4299665	0.94[ASN][1000 genomes]
rs4299666	0.94[ASN][1000 genomes]
rs4305590	0.92[ASN][1000 genomes]
rs4312824	0.94[ASN][1000 genomes]
rs4351079	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4353969	0.94[ASN][1000 genomes]
rs4365792	0.94[ASN][1000 genomes]
rs4377650	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4400060	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4400061	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4410590	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4412058	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4413468	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4422474	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4440295	0.81[ASN][1000 genomes]
rs4446390	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481286	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4495114	0.94[ASN][1000 genomes]
rs4516791	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4518318	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4583828	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591680	0.94[ASN][1000 genomes]
rs4607293	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4611997	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4618380	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4694159	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694160	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694588	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4694597	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694599	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694602	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694604	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694605	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694607	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694610	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694611	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694612	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55778959	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56879009	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57386454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58496756	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60212682	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60814050	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61612343	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6422321	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6422322	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6600867	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6600868	0.91[EUR][1000 genomes]
rs6827511	0.92[ASN][1000 genomes]
rs6850053	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72851338	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72851348	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72852416	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72852450	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7434389	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7435274	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7436912	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7438033	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7438808	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7439419	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7441365	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7441736	0.92[ASN][1000 genomes]
rs7442394	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7654272	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7657426	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7658748	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7659987	0.83[EUR][1000 genomes]
rs7660019	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7662632	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7666894	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7674573	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7674600	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7677996	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7679418	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7680156	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7687336	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7687692	0.80[ASN][1000 genomes]
rs7687725	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7692377	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7693166	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698430	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9715099	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6600865	UGT2B7	cis	Skin Sun Exposed Lower leg	GTEx
rs6600865	UGT2B7	cis	lung	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69919600-69924000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:69922600-69925000	Enhancers	Fetal Intestine Large	intestine
3	chr4:69922800-69924000	Enhancers	HSMMtube	muscle
4	chr4:69922800-69924200	Enhancers	HSMM	muscle
5	chr4:69922800-69924800	Flanking Active TSS	Liver	Liver
6	chr4:69922800-69925000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:69923000-69923800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:69923000-69923800	Active TSS	Fetal Kidney	kidney
9	chr4:69923000-69924000	Enhancers	A549	lung
10	chr4:69923000-69924600	Flanking Active TSS	HepG2	liver
11	chr4:69923000-69924800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:69923200-69923800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:69923200-69923800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:69923200-69923800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:69923200-69923800	Active TSS	Brain Hippocampus Middle	brain
16	chr4:69923200-69923800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:69923200-69923800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr4:69923200-69923800	Enhancers	HMEC	breast
19	chr4:69923200-69924000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:69923200-69924000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:69923200-69924000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:69923200-69924000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:69923200-69924000	Active TSS	Duodenum Mucosa	Duodenum
24	chr4:69923200-69924000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:69923200-69924200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:69923200-69924200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:69923200-69924600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:69923200-69924800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:69923200-69925000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:69923400-69923800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:69923400-69923800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:69923400-69923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:69923400-69923800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr4:69923400-69923800	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:69923400-69923800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr4:69923400-69923800	Active TSS	Colonic Mucosa	Colon
37	chr4:69923400-69923800	Active TSS	Fetal Intestine Small	intestine
38	chr4:69923400-69923800	Active TSS	Pancreas	Pancrea
39	chr4:69923400-69923800	Active TSS	Rectal Smooth Muscle	rectum
40	chr4:69923400-69923800	Active TSS	Stomach Mucosa	stomach
41	chr4:69923400-69923800	Active TSS	Osteobl	bone
42	chr4:69923400-69924000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:69923400-69924000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr4:69923400-69924400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:69923400-69924800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:69923600-69923800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:69923600-69923800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr4:69923600-69924000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr4:69923600-69924000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:69923600-69924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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