Variant report

Variant	rs7973455
Chromosome Location	chr12:118685295-118685296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118685088..118687913-chr12:118695342..118697547,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10507286	0.87[AMR][1000 genomes]
rs16948193	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16948197	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16948204	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16948230	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16948234	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17433217	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17440364	0.87[AMR][1000 genomes]
rs17440433	0.91[AMR][1000 genomes]
rs17440669	0.91[AMR][1000 genomes]
rs17440774	0.82[AMR][1000 genomes]
rs17512177	0.87[AMR][1000 genomes]
rs17512198	0.87[AMR][1000 genomes]
rs17512219	0.91[AMR][1000 genomes]
rs17512407	0.82[AMR][1000 genomes]
rs17512483	0.82[AMR][1000 genomes]
rs17512525	0.86[AMR][1000 genomes]
rs2784	0.82[AMR][1000 genomes]
rs3852532	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55833534	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56033674	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56708462	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58113338	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61943364	0.82[AMR][1000 genomes]
rs61945177	0.82[AMR][1000 genomes]
rs61945180	0.96[AMR][1000 genomes]
rs61945181	0.96[AMR][1000 genomes]
rs61945182	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945183	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945184	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945187	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945188	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945190	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61945192	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945206	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945210	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61945212	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945216	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945217	0.82[AMR][1000 genomes]
rs61945218	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61945220	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945221	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945223	0.82[AMR][1000 genomes]
rs61945224	0.82[AMR][1000 genomes]
rs61945225	0.82[AMR][1000 genomes]
rs61945226	0.96[AMR][1000 genomes]
rs61945228	0.96[AMR][1000 genomes]
rs61946064	0.82[AMR][1000 genomes]
rs61946067	0.91[AMR][1000 genomes]
rs61946068	0.91[AMR][1000 genomes]
rs7303417	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7307393	0.91[AMR][1000 genomes]
rs7309671	0.91[AMR][1000 genomes]
rs7314987	0.82[AMR][1000 genomes]
rs73205512	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73205526	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73205531	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7954330	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7962185	0.96[AMR][1000 genomes]
rs7963353	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7965350	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7970481	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7977403	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9669004	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv973125	chr12:118681868-118685795	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
2	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
7	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
8	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
9	chr12:118638800-118687800	Weak transcription	Gastric	stomach
10	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
11	chr12:118652200-118727800	Weak transcription	NHLF	lung
12	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:118669000-118725200	Weak transcription	K562	blood
18	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
19	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:118673400-118688200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:118673400-118692000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
24	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
25	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:118673800-118691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:118673800-118694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
30	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:118674000-118687400	Weak transcription	Small Intestine	intestine
33	chr12:118674000-118692000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
36	chr12:118674000-118726200	Weak transcription	Lung	lung
37	chr12:118675200-118692200	Weak transcription	Osteobl	bone
38	chr12:118675400-118691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:118676000-118688200	Weak transcription	Fetal Thymus	thymus
40	chr12:118676000-118692000	Weak transcription	Adipose Nuclei	Adipose
41	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:118676200-118692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:118676200-118694000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:118676200-118707400	Weak transcription	HSMM	muscle
45	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:118677000-118688200	Weak transcription	Dnd41	blood
49	chr12:118677000-118690800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:118677000-118691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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