Variant report

Variant	rs1086319
Chromosome Location	chr12:64599900-64599901
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	chr12:64597571..64599106-chr12:64599575..64602123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212298	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1086318	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695105	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34360383	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs789721	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789749	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789750	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs790011	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790012	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
2	chr12:64575600-64607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
5	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
9	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
10	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
11	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
12	chr12:64586000-64611800	Weak transcription	Small Intestine	intestine
13	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
14	chr12:64586800-64604200	Weak transcription	Ovary	ovary
15	chr12:64587400-64609600	Weak transcription	K562	blood
16	chr12:64588000-64600800	Weak transcription	Lung	lung
17	chr12:64588200-64613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:64588400-64605600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:64588400-64605800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:64588400-64606200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:64588400-64606400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64588400-64607200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:64588400-64613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:64588400-64613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:64588400-64614000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:64588400-64614600	Weak transcription	HMEC	breast
27	chr12:64588400-64614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:64588400-64615000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:64588400-64615000	Weak transcription	HSMM	muscle
30	chr12:64588400-64615200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:64588400-64615400	Weak transcription	Spleen	Spleen
32	chr12:64588600-64606000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:64588600-64612400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:64589000-64603400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:64589000-64604200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:64589000-64604200	Weak transcription	Fetal Intestine Small	intestine
37	chr12:64589000-64605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:64589000-64607600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:64589000-64607600	Weak transcription	GM12878-XiMat	blood
40	chr12:64589000-64609600	Weak transcription	Gastric	stomach
41	chr12:64589000-64613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:64589000-64613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:64589000-64614800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:64589000-64614800	Weak transcription	Fetal Thymus	thymus
45	chr12:64589000-64615200	Weak transcription	Fetal Intestine Large	intestine
46	chr12:64589000-64615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:64589200-64607800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:64589200-64611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:64589400-64612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:64589400-64614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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