Variant report

Variant	rs11068878
Chromosome Location	chr12:118669180-118669181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11068860	1.00[EUR][1000 genomes]
rs11068864	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068865	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068871	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068872	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068880	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068883	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11068887	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068888	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068889	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068891	0.91[ASN][1000 genomes]
rs11068892	0.96[ASN][1000 genomes]
rs11068893	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068896	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068898	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068901	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068904	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068906	0.90[ASN][1000 genomes]
rs11068908	0.90[ASN][1000 genomes]
rs11068909	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068914	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068915	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068916	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068920	1.00[EUR][1000 genomes]
rs11068922	0.80[ASN][1000 genomes]
rs11068923	1.00[EUR][1000 genomes]
rs11068924	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068937	1.00[EUR][1000 genomes]
rs11068940	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068941	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068943	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12227974	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228425	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229607	0.86[ASN][1000 genomes]
rs12230104	1.00[EUR][1000 genomes]
rs12231358	1.00[EUR][1000 genomes]
rs12231845	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17586582	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17619702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17619805	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17619932	0.83[ASN][1000 genomes]
rs2062520	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271007	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3741444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61943365	0.84[ASN][1000 genomes]
rs61945207	0.91[ASN][1000 genomes]
rs61945219	0.91[ASN][1000 genomes]
rs7132582	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296216	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73222058	0.93[ASN][1000 genomes]
rs7963464	0.91[ASN][1000 genomes]
rs7974718	0.93[ASN][1000 genomes]
rs9888447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:118628800-118673000	Weak transcription	NH-A	brain
5	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
11	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
13	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
14	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
15	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:118638800-118687800	Weak transcription	Gastric	stomach
17	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
18	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
19	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
20	chr12:118639400-118674800	Weak transcription	HMEC	breast
21	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118643000-118672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
24	chr12:118650600-118671400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:118650600-118672400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
27	chr12:118650800-118672200	Weak transcription	HSMM	muscle
28	chr12:118651800-118672200	Weak transcription	Lung	lung
29	chr12:118651800-118672400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:118652000-118672200	Weak transcription	Fetal Thymus	thymus
31	chr12:118652000-118672600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:118652000-118673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:118652200-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:118652200-118727800	Weak transcription	NHLF	lung
35	chr12:118654000-118674000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:118658800-118672400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:118659000-118672600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:118659000-118672800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:118659000-118675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:118660400-118672000	Weak transcription	Fetal Stomach	stomach
43	chr12:118660600-118674800	Weak transcription	HepG2	liver
44	chr12:118661800-118669200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:118663200-118669600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:118663800-118672600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:118664800-118674800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:118665400-118669600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:118666200-118677000	Strong transcription	Dnd41	blood
50	chr12:118666400-118669200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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