Variant report

Variant	rs1245186
Chromosome Location	chr12:65066245-65066246
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65002347..65007779-chr12:65064758..65067208,6	MCF-7	breast:
2	chr12:65064246..65067121-chr12:65074124..65076207,3	K562	blood:
3	chr12:65056922..65058477-chr12:65065654..65067212,2	MCF-7	breast:
4	chr12:65052241..65054552-chr12:65065705..65067689,2	MCF-7	breast:
5	chr12:65065244..65066840-chr12:65091744..65094557,2	MCF-7	breast:
6	chr12:65002496..65005791-chr12:65064142..65070485,7	K562	blood:
7	chr12:65065436..65068310-chr12:65070713..65073194,2	K562	blood:
8	chr12:65002390..65006169-chr12:65065133..65068726,5	MCF-7	breast:
9	chr12:65019020..65021619-chr12:65065192..65067422,3	MCF-7	breast:
10	chr12:65002391..65005791-chr12:65064142..65070932,8	K562	blood:
11	chr12:64844936..64846665-chr12:65064871..65067431,2	MCF-7	breast:
12	chr12:64934818..64936342-chr12:65065685..65068123,2	K562	blood:
13	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:
14	chr12:65019263..65021039-chr12:65064985..65067371,4	MCF-7	breast:
15	chr12:65065240..65066936-chr12:65070713..65072619,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10784417	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784418	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175483	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11175484	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147105	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1147107	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1244869	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1244873	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1244878	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245168	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245169	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245179	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245180	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245181	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1245183	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245184	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245185	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245187	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1264485	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1268914	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1270437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270836	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270837	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1272547	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1383117	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1690259	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690272	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690273	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716490	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1716496	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1716506	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1716517	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1795613	0.88[ASN][1000 genomes]
rs1795618	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1795621	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795622	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1795624	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1795625	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1797677	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1797678	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797679	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797684	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1797688	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1797689	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2464347	0.88[ASN][1000 genomes]
rs2620730	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2682714	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682716	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2682719	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2682728	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2701849	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2701850	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7968403	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971636	0.88[ASN][1000 genomes]
rs7975455	0.86[EUR][1000 genomes];0.91[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	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
2	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
3	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
5	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:65060200-65069200	Weak transcription	Osteobl	bone
7	chr12:65060600-65066400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:65060800-65066400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:65061600-65067600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:65061800-65069800	Enhancers	Fetal Intestine Small	intestine
11	chr12:65062600-65068200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:65062600-65069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:65062600-65070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:65062600-65071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:65062800-65067600	Enhancers	HMEC	breast
16	chr12:65062800-65068600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:65062800-65068600	Enhancers	Fetal Lung	lung
18	chr12:65063000-65067400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:65063000-65069600	Enhancers	Pancreas	Pancrea
20	chr12:65063000-65070000	Enhancers	Lung	lung
21	chr12:65063000-65071400	Enhancers	Left Ventricle	heart
22	chr12:65063400-65066400	Enhancers	Fetal Muscle Leg	muscle
23	chr12:65063400-65066600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:65063400-65068800	Enhancers	Placenta	Placenta
25	chr12:65063600-65066400	Weak transcription	Aorta	Aorta
26	chr12:65063600-65066600	Enhancers	Fetal Heart	heart
27	chr12:65063600-65066800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:65063600-65066800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:65063600-65068600	Enhancers	Adipose Nuclei	Adipose
30	chr12:65063600-65069600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:65063600-65071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:65063600-65073400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:65063800-65067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:65064000-65066400	Weak transcription	Psoas Muscle	Psoas
35	chr12:65064000-65066600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:65064000-65066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:65064000-65066600	Weak transcription	Fetal Kidney	kidney
38	chr12:65064000-65066800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:65064000-65066800	Enhancers	HUVEC	blood vessel
40	chr12:65064000-65068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:65064000-65069800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:65064000-65070600	Enhancers	Colonic Mucosa	Colon
43	chr12:65064000-65073400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:65064000-65073400	Weak transcription	Fetal Brain Male	brain
45	chr12:65064000-65076000	Enhancers	Fetal Thymus	thymus
46	chr12:65064000-65078200	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:65064400-65068600	Enhancers	Dnd41	blood
48	chr12:65064400-65070200	Enhancers	Primary hematopoietic stem cells	blood
49	chr12:65064600-65066400	Enhancers	Primary B cells from cord blood	blood
50	chr12:65064600-65066400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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