Variant report

Variant	rs12147199
Chromosome Location	chr14:69251498-69251499
allele	C/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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69095355..69099854-chr14:69250960..69255583,6	MCF-7	breast:
2	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
3	chr14:69122387..69124084-chr14:69250804..69252456,2	MCF-7	breast:
4	chr14:69134295..69136802-chr14:69251321..69253265,2	MCF-7	breast:
5	chr14:69150930..69152614-chr14:69251303..69253667,2	MCF-7	breast:
6	chr14:68641461..68644387-chr14:69250543..69254390,3	MCF-7	breast:
7	chr14:68941663..68944828-chr14:69250861..69253636,3	MCF-7	breast:
8	chr14:69219042..69221394-chr14:69250873..69253733,2	MCF-7	breast:
9	chr14:68400013..68402896-chr14:69251166..69253884,2	MCF-7	breast:
10	chr14:69251493..69253776-chr16:2254410..2257128,2	MCF-7	breast:
11	chr14:69218982..69221313-chr14:69251306..69253828,3	MCF-7	breast:
12	chr14:68704238..68708340-chr14:69251416..69255393,5	MCF-7	breast:
13	chr14:69050025..69052372-chr14:69251168..69253724,2	MCF-7	breast:
14	chr14:69213485..69215775-chr14:69249988..69251772,2	K562	blood:
15	chr14:69189213..69193249-chr14:69249817..69253831,4	MCF-7	breast:
16	chr14:68656774..68658539-chr14:69251290..69253166,2	MCF-7	breast:
17	chr14:69054452..69058686-chr14:69249853..69254831,4	MCF-7	breast:
18	chr14:68658549..68661860-chr14:69250890..69254751,3	MCF-7	breast:
19	chr14:68681266..68683165-chr14:69251236..69254118,2	MCF-7	breast:
20	chr14:69035875..69039894-chr14:69250533..69252732,3	MCF-7	breast:
21	chr14:69088224..69090068-chr14:69250540..69253091,2	MCF-7	breast:
22	chr14:69130772..69132590-chr14:69251342..69252982,2	MCF-7	breast:
23	chr14:69179231..69184883-chr14:69249659..69253927,5	MCF-7	breast:
24	chr14:68744987..68750260-chr14:69250111..69256950,7	MCF-7	breast:
25	chr14:68697979..68700527-chr14:69251377..69254277,2	MCF-7	breast:
26	chr14:68405495..68411980-chr14:69250946..69254866,9	MCF-7	breast:
27	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:
28	chr14:69125612..69128109-chr14:69250025..69252097,2	MCF-7	breast:
29	chr14:69193445..69195647-chr14:69250713..69253431,2	MCF-7	breast:
30	chr14:69030740..69033327-chr14:69250048..69252689,2	K562	blood:
31	chr14:69022061..69023580-chr14:69250425..69252837,2	MCF-7	breast:
32	chr14:69036141..69039001-chr14:69250831..69253472,2	MCF-7	breast:
33	chr14:68607251..68609680-chr14:69249832..69252803,2	MCF-7	breast:
34	chr14:68925872..68927524-chr14:69250657..69253256,2	MCF-7	breast:
35	chr14:69029510..69035367-chr14:69250877..69256211,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252958	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000258623	Chromatin interaction
ENSG00000167965	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10139199	1.00[ASN][1000 genomes]
rs12147461	1.00[ASN][1000 genomes]
rs12148044	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1274955	1.00[ASN][1000 genomes]
rs17757282	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1898320	1.00[ASN][1000 genomes]
rs194713	1.00[ASN][1000 genomes]
rs194743	1.00[ASN][1000 genomes]
rs2164627	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899260	1.00[ASN][1000 genomes]
rs4899262	1.00[ASN][1000 genomes]
rs4902649	1.00[ASN][1000 genomes]
rs4902652	1.00[ASN][1000 genomes]
rs55814645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55885232	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56020080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082161	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56095181	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56119720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232028	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58638884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731526	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731527	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731529	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72731532	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72731534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72731535	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731537	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731538	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731549	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731550	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731564	0.87[AMR][1000 genomes]
rs72731565	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72731567	1.00[ASN][1000 genomes]
rs72731576	1.00[ASN][1000 genomes]
rs72731577	1.00[ASN][1000 genomes]
rs72731579	1.00[ASN][1000 genomes]
rs72731581	1.00[ASN][1000 genomes]
rs735292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8013475	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8019383	1.00[ASN][1000 genomes]
rs971290	1.00[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
2	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
3	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
4	chr14:69245600-69253200	Enhancers	Fetal Thymus	thymus
5	chr14:69247000-69252400	Enhancers	Liver	Liver
6	chr14:69248000-69253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:69248000-69254000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:69248000-69254000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:69248200-69253200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:69248200-69253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:69248200-69253400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:69248200-69253400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:69248200-69253600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:69248200-69253600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:69248200-69254000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:69248200-69254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:69248200-69255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:69248400-69251600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:69248400-69252200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:69248400-69252400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:69248400-69253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:69248400-69253400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:69248400-69253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:69248400-69253600	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:69248400-69253600	Weak transcription	Psoas Muscle	Psoas
26	chr14:69248400-69253800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:69248400-69253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:69248400-69254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:69248400-69255800	Weak transcription	Brain Anterior Caudate	brain
30	chr14:69248600-69253000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:69248600-69253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69248600-69253200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:69248600-69253400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:69248600-69253600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:69248600-69253600	Weak transcription	HSMMtube	muscle
36	chr14:69248600-69253800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:69248600-69255000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr14:69248600-69255800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:69248800-69253000	Weak transcription	Primary B cells from cord blood	blood
40	chr14:69248800-69253000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:69248800-69253600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:69248800-69255200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:69249000-69253600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:69249000-69253800	Weak transcription	Brain Substantia Nigra	brain
45	chr14:69249000-69255200	Weak transcription	Fetal Brain Male	brain
46	chr14:69249200-69252000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:69249200-69253800	Weak transcription	Right Ventricle	heart
48	chr14:69249200-69254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:69249400-69252600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:69249400-69252600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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