Variant report

Variant	rs10147248
Chromosome Location	chr14:97268547-97268548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97265880..97270207-chr14:97278911..97281407,6	K562	blood:
2	chr14:97265808..97269390-chr14:97269409..97272897,4	MCF-7	breast:
3	chr14:97266936..97268792-chr14:97269139..97271889,2	MCF-7	breast:
4	chr14:97265289..97269463-chr14:97278304..97281407,5	K562	blood:
5	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	0.94[EUR][1000 genomes]
rs17094552	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094594	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.94[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs7149464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355679	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7494297	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9635293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][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	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264600-97272400	Weak transcription	Spleen	Spleen
2	chr14:97264800-97272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:97264800-97272400	Weak transcription	Gastric	stomach
4	chr14:97264800-97272400	Weak transcription	Pancreas	Pancrea
5	chr14:97264800-97278400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
8	chr14:97265000-97270200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:97265000-97271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
11	chr14:97265200-97269800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:97265200-97271800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
14	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:97265400-97268600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:97265400-97270000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:97265400-97270400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:97265400-97270800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:97265400-97271000	Weak transcription	Fetal Heart	heart
20	chr14:97265400-97271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:97265400-97271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:97265400-97274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:97265400-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:97265400-97278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:97265600-97270000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:97265600-97271800	Weak transcription	Primary B cells from cord blood	blood
28	chr14:97265600-97272800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:97265600-97277600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:97265600-97291800	Weak transcription	A549	lung
33	chr14:97266200-97269000	Enhancers	K562	blood
34	chr14:97266200-97269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:97266200-97270000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:97266200-97270200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:97266200-97271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:97266200-97271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:97266200-97271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:97266200-97271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:97266200-97272600	Weak transcription	NHEK	skin
42	chr14:97266200-97277600	Weak transcription	NHDF-Ad	bronchial
43	chr14:97266200-97277800	Weak transcription	HSMM	muscle
44	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
46	chr14:97266600-97271600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:97266600-97272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:97266800-97271400	Weak transcription	Fetal Brain Female	brain
49	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
50	chr14:97267400-97270400	Weak transcription	Fetal Brain Male	brain

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