Variant report

Variant	rs10084172
Chromosome Location	chr2:10771228-10771229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10769531..10772352-chr2:10773406..10776772,3	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10166765	0.89[ASN][1000 genomes]
rs10167779	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10168351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10168852	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174605	0.89[ASN][1000 genomes]
rs10175555	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs10175884	0.87[ASN][1000 genomes]
rs10177062	0.86[ASN][1000 genomes]
rs10178751	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10182589	0.89[ASN][1000 genomes]
rs10183359	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10183883	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10186984	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187659	0.85[ASN][1000 genomes]
rs10188373	0.87[ASN][1000 genomes]
rs10190673	0.87[ASN][1000 genomes]
rs10190774	0.87[ASN][1000 genomes]
rs10198971	0.87[ASN][1000 genomes]
rs10199635	0.81[ASN][1000 genomes]
rs10199831	0.89[ASN][1000 genomes]
rs10202370	0.88[ASN][1000 genomes]
rs10207885	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10208103	0.89[ASN][1000 genomes]
rs10211190	0.89[ASN][1000 genomes]
rs10803724	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10803725	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929677	0.87[ASN][1000 genomes]
rs10929678	0.89[ASN][1000 genomes]
rs10929679	0.89[ASN][1000 genomes]
rs10929680	0.89[ASN][1000 genomes]
rs10929681	0.89[ASN][1000 genomes]
rs10929683	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929684	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929685	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680664	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11684537	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12104950	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12329184	0.89[ASN][1000 genomes]
rs12473787	0.85[ASN][1000 genomes]
rs12473957	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs12474625	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12475662	0.88[ASN][1000 genomes]
rs12476554	0.84[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613769	0.80[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12618726	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621977	0.89[ASN][1000 genomes]
rs12622053	0.89[ASN][1000 genomes]
rs12690510	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12692412	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs12692414	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12692420	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995465	0.87[ASN][1000 genomes]
rs12996735	0.87[ASN][1000 genomes]
rs13009015	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13027316	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13407040	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13424648	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13425171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427815	0.84[ASN][1000 genomes]
rs13430911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2024432	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024433	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160258	0.87[ASN][1000 genomes]
rs2357649	0.81[JPT][hapmap]
rs2357650	0.81[JPT][hapmap]
rs2884232	0.87[ASN][1000 genomes]
rs34595606	0.89[ASN][1000 genomes]
rs35859525	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55750243	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127197	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62128635	0.89[ASN][1000 genomes]
rs6711473	0.89[ASN][1000 genomes]
rs6714787	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717431	0.89[ASN][1000 genomes]
rs6720112	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6721857	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs6722126	0.84[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs6730247	0.89[ASN][1000 genomes]
rs6732429	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6740245	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751436	0.89[ASN][1000 genomes]
rs6755281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs744809	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7572489	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589694	0.86[ASN][1000 genomes]
rs759401	0.85[ASN][1000 genomes]
rs7598541	0.86[ASN][1000 genomes]
rs9287718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs9287721	0.91[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs9973374	0.87[ASN][1000 genomes]
rs9973456	0.87[ASN][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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10084172	PDIA6	cis	cerebellum	SCAN
rs10084172	NOL10	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
3	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10730800-10774400	Weak transcription	Psoas Muscle	Psoas
6	chr2:10732000-10777600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:10740200-10782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:10742400-10773800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:10742400-10774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:10742600-10772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
13	chr2:10744400-10777000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:10745200-10772400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:10746600-10777000	Weak transcription	Colonic Mucosa	Colon
16	chr2:10746600-10781800	Weak transcription	Right Ventricle	heart
17	chr2:10746800-10774000	Weak transcription	Spleen	Spleen
18	chr2:10746800-10774400	Weak transcription	HSMMtube	muscle
19	chr2:10746800-10781800	Weak transcription	Pancreas	Pancrea
20	chr2:10747000-10781800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:10749400-10774200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:10753600-10792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
24	chr2:10755600-10772400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:10756000-10772200	Weak transcription	HMEC	breast
26	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10757600-10776600	Weak transcription	Hela-S3	cervix
29	chr2:10757600-10777600	Weak transcription	Brain Substantia Nigra	brain
30	chr2:10757800-10774400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:10758000-10782000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:10758200-10773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:10758600-10773800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:10759800-10772600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:10760200-10773000	Weak transcription	Fetal Lung	lung
36	chr2:10760600-10774000	Weak transcription	Fetal Brain Female	brain
37	chr2:10761000-10773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:10761000-10774400	Weak transcription	NHDF-Ad	bronchial
39	chr2:10761000-10778200	Weak transcription	Thymus	Thymus
40	chr2:10761000-10782200	Weak transcription	NHLF	lung
41	chr2:10761000-10783000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:10761200-10772400	Weak transcription	Osteobl	bone
43	chr2:10761200-10772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:10761200-10772800	Weak transcription	Fetal Thymus	thymus
45	chr2:10761200-10773000	Weak transcription	Dnd41	blood
46	chr2:10761200-10774000	Weak transcription	Placenta	Placenta
47	chr2:10761200-10774000	Weak transcription	HUVEC	blood vessel
48	chr2:10761200-10777600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:10761200-10782400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:10761200-10782800	Weak transcription	Brain Anterior Caudate	brain

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