Variant report

Variant	rs12607329
Chromosome Location	chr18:13045031-13045032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13044410..13046613-chr18:13047934..13050336,2	MCF-7	breast:
2	chr18:13043020..13046495-chr18:13047158..13050914,5	K562	blood:
3	chr18:13013666..13015627-chr18:13045004..13047984,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11080624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080626	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080627	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080628	0.81[AMR][1000 genomes]
rs11659468	0.92[EUR][1000 genomes]
rs11660908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662528	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663369	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663399	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663455	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663778	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11664958	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665394	0.92[EUR][1000 genomes]
rs12604624	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607323	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607661	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12607682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3602	0.82[JPT][hapmap];0.90[YRI][hapmap]
rs3786160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3786162	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786163	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786164	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809907	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809908	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56913743	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57292913	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57448401	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57906042	0.92[EUR][1000 genomes]
rs58158805	0.91[EUR][1000 genomes]
rs58322002	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58343237	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58554306	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558999	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58820551	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59278606	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59557962	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59962936	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60015020	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60281669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60444886	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60669993	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60685477	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60710487	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60827697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60945352	0.85[AMR][1000 genomes]
rs60989271	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61364693	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095829	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66470739	0.92[EUR][1000 genomes]
rs66494849	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650609	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650616	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6650617	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559751	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66685204	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688868	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66929859	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66935882	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67084247	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67258461	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67334724	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67357574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67432911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67565680	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67675517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765196	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67838921	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67863818	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67868710	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67955156	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68051414	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs68169869	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228940	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233578	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7236172	0.95[EUR][1000 genomes]
rs7236987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243276	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243536	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243597	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72636759	0.83[AMR][1000 genomes]
rs72636760	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72636761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084728	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088543	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090759	0.92[EUR][1000 genomes]
rs8091992	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093650	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094351	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952452	1.00[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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
4	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
6	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
7	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
8	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
10	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:13030000-13048600	Weak transcription	Brain Substantia Nigra	brain
12	chr18:13031000-13048400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:13031000-13048600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr18:13032000-13047000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:13032000-13048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:13032000-13048200	Weak transcription	Colon Smooth Muscle	Colon
17	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
18	chr18:13032400-13048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:13032600-13048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:13033000-13046000	Weak transcription	Brain Angular Gyrus	brain
21	chr18:13033000-13046000	Weak transcription	Spleen	Spleen
22	chr18:13033000-13047200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
24	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:13033600-13046800	Weak transcription	HepG2	liver
26	chr18:13036400-13051400	Strong transcription	Primary B cells from cord blood	blood
27	chr18:13036600-13046000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:13036800-13046000	Weak transcription	Aorta	Aorta
29	chr18:13036800-13046000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:13036800-13048000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:13036800-13048600	Weak transcription	Colonic Mucosa	Colon
32	chr18:13036800-13051400	Weak transcription	Gastric	stomach
33	chr18:13036800-13051800	Weak transcription	NHLF	lung
34	chr18:13036800-13053200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:13037000-13047200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr18:13037200-13046000	Weak transcription	Lung	lung
37	chr18:13038800-13045800	Weak transcription	NHEK	skin
38	chr18:13038800-13049400	Weak transcription	HMEC	breast
39	chr18:13039800-13050800	Weak transcription	Fetal Intestine Small	intestine
40	chr18:13040000-13046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:13040200-13051800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:13041000-13050600	Strong transcription	HUVEC	blood vessel
43	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr18:13041800-13058400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:13042000-13045800	Strong transcription	NHDF-Ad	bronchial
47	chr18:13042000-13049600	Weak transcription	Fetal Stomach	stomach
48	chr18:13042200-13048600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:13042400-13046000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:13042400-13048400	Weak transcription	Brain Hippocampus Middle	brain

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