Variant report

Variant	rs1065629
Chromosome Location	chr1:70034663-70034664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1145922	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1145924	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1245039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245040	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245043	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1245045	0.87[ASN][1000 genomes]
rs1245046	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1245047	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1245049	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1245050	0.87[ASN][1000 genomes]
rs1245052	0.87[ASN][1000 genomes]
rs1245053	1.00[JPT][hapmap]
rs1245054	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1245056	0.87[ASN][1000 genomes]
rs1245057	0.87[ASN][1000 genomes]
rs1245058	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1245061	0.87[ASN][1000 genomes]
rs1245063	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1245067	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1245068	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1245069	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1245070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1245072	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[TSI][hapmap];0.85[AFR][1000 genomes]
rs1261871	0.87[ASN][1000 genomes]
rs1264407	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1264408	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1264409	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1270432	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1270434	0.87[ASN][1000 genomes]
rs1270435	0.87[ASN][1000 genomes]
rs1271928	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1341778	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs1341779	0.87[ASN][1000 genomes]
rs1341780	0.87[ASN][1000 genomes]
rs1341781	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1361613	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1418007	0.87[ASN][1000 genomes]
rs1418008	0.87[ASN][1000 genomes]
rs1418012	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs1615332	0.87[ASN][1000 genomes]
rs1618786	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1619463	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1622158	0.87[ASN][1000 genomes]
rs1622893	0.87[ASN][1000 genomes]
rs1623673	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1625490	0.87[ASN][1000 genomes]
rs1627769	0.87[ASN][1000 genomes]
rs1628716	0.87[ASN][1000 genomes]
rs1631834	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs17324599	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17396516	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749459	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1749473	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1749484	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs1749492	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749494	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749496	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749497	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1749498	0.87[ASN][1000 genomes]
rs1749499	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1749500	0.87[ASN][1000 genomes]
rs1749502	0.87[ASN][1000 genomes]
rs1749504	1.00[JPT][hapmap]
rs1749506	0.87[ASN][1000 genomes]
rs1749507	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1749508	0.87[ASN][1000 genomes]
rs1749512	0.87[ASN][1000 genomes]
rs1749514	0.87[ASN][1000 genomes]
rs1749515	1.00[JPT][hapmap]
rs1749517	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1749520	0.87[ASN][1000 genomes]
rs1773309	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1773314	0.87[ASN][1000 genomes]
rs1773315	0.87[ASN][1000 genomes]
rs1773316	0.87[ASN][1000 genomes]
rs1773317	0.87[ASN][1000 genomes]
rs1773318	0.87[ASN][1000 genomes]
rs1773320	0.87[ASN][1000 genomes]
rs1773321	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1773322	0.87[ASN][1000 genomes]
rs1773324	0.87[ASN][1000 genomes]
rs1773325	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1773327	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1773329	0.87[ASN][1000 genomes]
rs1773330	0.87[ASN][1000 genomes]
rs1773332	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1773333	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1773335	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs1773336	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1773337	0.86[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs1773338	0.87[ASN][1000 genomes]
rs1773339	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs1773340	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773346	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773348	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773350	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2094038	0.87[ASN][1000 genomes]
rs2147785	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2209456	0.87[ASN][1000 genomes]
rs227102	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227104	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227105	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227108	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs227114	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs2487762	0.87[ASN][1000 genomes]
rs2487763	0.87[ASN][1000 genomes]
rs2487764	0.87[ASN][1000 genomes]
rs2764522	0.87[ASN][1000 genomes]
rs2764530	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs2764532	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2764534	0.87[ASN][1000 genomes]
rs2764535	0.87[ASN][1000 genomes]
rs966069	0.87[ASN][1000 genomes]
rs966070	0.87[ASN][1000 genomes]
rs966071	0.87[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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70032000-70036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:70032200-70036800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:70032200-70038400	Active TSS	Brain Anterior Caudate	brain
4	chr1:70032400-70034800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:70032400-70035000	Active TSS	Psoas Muscle	Psoas
6	chr1:70032400-70035200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:70032400-70035600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:70032400-70035600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:70032400-70036400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:70032400-70036400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:70032400-70036400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:70032400-70036400	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:70032400-70036600	Active TSS	Brain Angular Gyrus	brain
14	chr1:70032400-70036600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:70032600-70035000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:70032600-70035200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr1:70032600-70035200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr1:70032600-70035400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:70032600-70035600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:70032600-70035600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr1:70032600-70035600	Active TSS	Pancreas	Pancrea
22	chr1:70032600-70035800	Active TSS	Brain Substantia Nigra	brain
23	chr1:70032600-70036000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr1:70032600-70036200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:70032600-70036200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:70032600-70036200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:70032600-70036200	Active TSS	Right Atrium	heart
28	chr1:70032800-70035000	Bivalent/Poised TSS	NHLF	lung
29	chr1:70032800-70035400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:70032800-70037600	Active TSS	Fetal Brain Male	brain
34	chr1:70033000-70034800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:70033000-70035200	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr1:70033000-70036000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:70033000-70036000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
38	chr1:70033200-70035800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
39	chr1:70033200-70035800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:70033400-70035200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:70033600-70034800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr1:70033600-70035000	Bivalent/Poised TSS	Left Ventricle	heart
43	chr1:70033600-70035400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:70033600-70036200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:70033800-70034800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:70033800-70034800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr1:70033800-70034800	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr1:70033800-70035600	Bivalent Enhancer	Placenta	Placenta
49	chr1:70033800-70035800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr1:70033800-70036000	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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