Variant report

Variant	rs9630265
Chromosome Location	chr12:9834567-9834568
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1008611	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10466762	1.00[JPT][hapmap]
rs10743820	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10743821	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs10743822	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10772005	1.00[JPT][hapmap]
rs10772006	1.00[JPT][hapmap]
rs10772060	1.00[CHB][hapmap]
rs10772104	1.00[JPT][hapmap]
rs10772119	1.00[JPT][hapmap]
rs10772120	1.00[JPT][hapmap]
rs10844350	1.00[JPT][hapmap]
rs10844351	1.00[JPT][hapmap]
rs10844359	1.00[JPT][hapmap]
rs10844372	1.00[JPT][hapmap]
rs10844418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844449	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844457	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844476	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844780	1.00[JPT][hapmap]
rs11052234	1.00[JPT][hapmap]
rs11052241	1.00[JPT][hapmap]
rs11052254	1.00[JPT][hapmap]
rs11052303	0.84[ASN][1000 genomes]
rs11052304	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11052305	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052311	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052327	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052342	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052434	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052718	0.84[ASN][1000 genomes]
rs11052785	0.84[ASN][1000 genomes]
rs11053051	1.00[JPT][hapmap]
rs11519377	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11524523	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12320830	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366653	1.00[JPT][hapmap]
rs12368445	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs12578698	0.84[ASN][1000 genomes]
rs12578928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582616	0.84[ASN][1000 genomes]
rs12810851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815393	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817365	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12823653	1.00[CHB][hapmap]
rs12823699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824491	1.00[JPT][hapmap]
rs12825507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828773	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830419	1.00[JPT][hapmap]
rs12831453	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560008	1.00[JPT][hapmap]
rs16913477	1.00[JPT][hapmap]
rs1861089	1.00[CHB][hapmap]
rs1863871	1.00[JPT][hapmap]
rs1990533	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2080207	1.00[CHB][hapmap]
rs2114869	1.00[JPT][hapmap]
rs2114872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192433	0.84[ASN][1000 genomes]
rs2192434	0.84[ASN][1000 genomes]
rs2192435	0.84[ASN][1000 genomes]
rs2192439	0.89[ASN][1000 genomes]
rs2401396	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2401397	1.00[JPT][hapmap]
rs2401398	1.00[JPT][hapmap]
rs3176792	0.90[CEU][hapmap]
rs3176800	1.00[JPT][hapmap]
rs3176802	1.00[JPT][hapmap]
rs3176806	1.00[JPT][hapmap]
rs34201389	0.84[ASN][1000 genomes]
rs35237063	0.89[ASN][1000 genomes]
rs4763264	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763813	1.00[CHB][hapmap]
rs4763814	1.00[CHB][hapmap]
rs4763835	0.84[ASN][1000 genomes]
rs61913428	0.84[ASN][1000 genomes]
rs6416258	1.00[JPT][hapmap]
rs6488065	1.00[JPT][hapmap]
rs6488109	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704223	1.00[JPT][hapmap]
rs7132037	1.00[JPT][hapmap]
rs7302110	1.00[JPT][hapmap]
rs7302746	1.00[JPT][hapmap]
rs7304321	1.00[JPT][hapmap]
rs7304464	1.00[JPT][hapmap]
rs7309800	1.00[JPT][hapmap]
rs7310568	1.00[JPT][hapmap]
rs7310790	1.00[JPT][hapmap]
rs7310897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311421	1.00[JPT][hapmap]
rs7311574	1.00[JPT][hapmap]
rs7311945	1.00[JPT][hapmap]
rs7312624	1.00[JPT][hapmap]
rs7485402	1.00[CHB][hapmap]
rs7954062	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7961416	1.00[JPT][hapmap]
rs7961812	1.00[CHB][hapmap]
rs7962025	0.81[EUR][1000 genomes]
rs7962321	1.00[JPT][hapmap]
rs7969074	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969441	0.83[AFR][1000 genomes]
rs7972035	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974871	1.00[JPT][hapmap]
rs7975557	1.00[CHB][hapmap]
rs7978187	1.00[JPT][hapmap]
rs7979758	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929615	1.00[JPT][hapmap]
rs9630264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668568	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs982511	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9919786	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9630265	LOC374443	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain
4	chr12:9815200-9841600	Weak transcription	Fetal Kidney	kidney
5	chr12:9816200-9840600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:9817200-9837800	Weak transcription	Aorta	Aorta
7	chr12:9818000-9839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:9818000-9839800	Weak transcription	Ovary	ovary
9	chr12:9818000-9840000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:9818200-9840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:9826400-9849000	Weak transcription	Psoas Muscle	Psoas
13	chr12:9826600-9847200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:9826600-9852400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:9826800-9837400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:9826800-9840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:9826800-9840600	Weak transcription	HSMMtube	muscle
18	chr12:9826800-9841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:9826800-9841400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:9826800-9844600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:9826800-9848400	Weak transcription	Colonic Mucosa	Colon
22	chr12:9826800-9849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:9826800-9849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:9826800-9854400	Weak transcription	Esophagus	oesophagus
25	chr12:9827000-9837400	Weak transcription	Right Ventricle	heart
26	chr12:9827000-9840800	Weak transcription	Adipose Nuclei	Adipose
27	chr12:9827000-9853200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:9827200-9835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:9827200-9835000	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:9827200-9837600	Weak transcription	Fetal Heart	heart
31	chr12:9827200-9837800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:9827200-9837800	Weak transcription	Fetal Stomach	stomach
33	chr12:9827200-9837800	Weak transcription	Left Ventricle	heart
34	chr12:9827200-9838400	Weak transcription	Spleen	Spleen
35	chr12:9827200-9840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:9827200-9840600	Weak transcription	HSMM	muscle
37	chr12:9827200-9841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:9827200-9847000	Weak transcription	NH-A	brain
39	chr12:9827200-9847400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:9827200-9847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:9827200-9851000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:9827200-9851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:9827200-9852400	Weak transcription	Osteobl	bone
44	chr12:9827400-9840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:9827400-9849000	Weak transcription	A549	lung
46	chr12:9828400-9835400	ZNF genes & repeats	GM12878-XiMat	blood
47	chr12:9828800-9840600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:9831600-9835800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:9832200-9835200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:9832200-9836400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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