Variant report

Variant	rs2067882
Chromosome Location	chr1:62500866-62500867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11577828	1.00[CHB][hapmap]
rs11581307	1.00[CHB][hapmap]
rs11584978	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11590158	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590485	1.00[CHB][hapmap]
rs11590812	1.00[CHB][hapmap]
rs11590954	1.00[CHB][hapmap]
rs12072096	0.80[CEU][hapmap]
rs12076492	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs1332631	1.00[CHB][hapmap]
rs1332632	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1412620	1.00[CHB][hapmap]
rs1537316	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1537317	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17122925	0.82[EUR][1000 genomes]
rs17122938	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122975	0.91[YRI][hapmap]
rs17122991	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17123017	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025290	0.81[CEU][hapmap]
rs2067881	1.00[CHB][hapmap]
rs2365985	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476180	1.00[CHB][hapmap]
rs34050378	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3762449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41394744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4325166	1.00[CHB][hapmap]
rs4915792	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4915793	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4915794	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59354521	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61313871	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775625	0.82[EUR][1000 genomes]
rs61775627	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775628	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61775652	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775653	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775654	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775656	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775657	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775658	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61775659	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61777667	0.87[EUR][1000 genomes]
rs6660262	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660358	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695442	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697273	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677937	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7528431	1.00[CHB][hapmap]
rs7528797	0.82[EUR][1000 genomes]
rs7531027	1.00[CHB][hapmap]
rs7534748	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
2	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:62459200-62511200	Weak transcription	Gastric	stomach
6	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:62460200-62516000	Weak transcription	HMEC	breast
10	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:62484600-62506000	Weak transcription	NHEK	skin
16	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:62488400-62521200	Weak transcription	Ovary	ovary
19	chr1:62491800-62511200	Weak transcription	Psoas Muscle	Psoas
20	chr1:62494600-62504600	Weak transcription	Aorta	Aorta
21	chr1:62494600-62511200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:62494600-62524400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:62494600-62524400	Weak transcription	Esophagus	oesophagus
24	chr1:62494800-62505200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:62495000-62504400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:62495000-62515200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:62495200-62516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:62495200-62544800	Weak transcription	Liver	Liver
29	chr1:62496200-62504600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:62497200-62515000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:62499400-62501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:62499400-62504200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:62499600-62501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:62499600-62502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:62499600-62505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:62499800-62501400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:62500000-62503000	Weak transcription	Left Ventricle	heart
38	chr1:62500000-62504400	Weak transcription	Right Atrium	heart
39	chr1:62500000-62504600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:62500000-62505200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:62500000-62505400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:62500000-62506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:62500000-62515400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:62500400-62505400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:62500400-62505400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:62500400-62511200	Weak transcription	Right Ventricle	heart
47	chr1:62500600-62501000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:62500800-62505200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:62500800-62511200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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