Variant report

Variant	rs12070256
Chromosome Location	chr1:151070090-151070091
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	chr1:151069957..151072629-chr1:151138588..151140280,2	MCF-7	breast:
2	chr1:151065188..151067602-chr1:151069192..151070994,2	K562	blood:

Variant related genes	Relation type
ENSG00000143458	Chromatin interaction
ENSG00000163156	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11204774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11204775	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12058128	0.81[EUR][1000 genomes]
rs12074309	0.89[EUR][1000 genomes]
rs12090246	0.81[EUR][1000 genomes]
rs16832976	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34761930	0.89[EUR][1000 genomes]
rs41266632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6664387	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7537292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872421	chr1:151055670-151098077	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151044000-151079600	Weak transcription	Spleen	Spleen
2	chr1:151044000-151080600	Weak transcription	Esophagus	oesophagus
3	chr1:151044200-151070800	Weak transcription	Fetal Lung	lung
4	chr1:151044200-151080200	Weak transcription	Aorta	Aorta
5	chr1:151044400-151079000	Weak transcription	Left Ventricle	heart
6	chr1:151044400-151079600	Weak transcription	Lung	lung
7	chr1:151044400-151090200	Weak transcription	Gastric	stomach
8	chr1:151044400-151090400	Weak transcription	Right Ventricle	heart
9	chr1:151044400-151103600	Weak transcription	Small Intestine	intestine
10	chr1:151044600-151076000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:151044600-151080400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:151044600-151080600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:151044600-151081000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:151044800-151070400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:151044800-151079600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:151044800-151080200	Weak transcription	Fetal Brain Female	brain
17	chr1:151044800-151089400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:151044800-151098800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:151045000-151070400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:151045000-151079400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:151045000-151080000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:151045000-151080400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151045200-151081000	Weak transcription	Placenta	Placenta
24	chr1:151045800-151070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:151047200-151090400	Weak transcription	Dnd41	blood
26	chr1:151047400-151090400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:151047600-151075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:151047800-151079600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:151047800-151089200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:151052200-151103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:151054400-151070400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:151056200-151079600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:151057800-151075200	Weak transcription	Psoas Muscle	Psoas
34	chr1:151060600-151090200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:151061400-151079200	Weak transcription	Osteobl	bone
36	chr1:151061800-151070600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:151061800-151090400	Weak transcription	Fetal Kidney	kidney
38	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:151062000-151079400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:151062200-151088800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:151062400-151076000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:151063200-151074200	Weak transcription	Liver	Liver
43	chr1:151063200-151080800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:151063400-151070200	Weak transcription	Fetal Stomach	stomach
45	chr1:151063400-151070400	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:151063400-151070600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:151063400-151079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:151064200-151079200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:151064200-151103400	Weak transcription	Colonic Mucosa	Colon
50	chr1:151064400-151071000	Strong transcription	Primary T cells from cord blood	blood

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