Variant report

Variant	rs2297243
Chromosome Location	chr14:97022900-97022901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10145194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1038439	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11160342	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11160343	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147170	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12147717	1.00[CEU][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12586789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12589747	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28600893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap]
rs3809425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56088908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59323239	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61368673	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7142226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72706848	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72706852	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72706853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72706855	1.00[ASN][1000 genomes]
rs72706857	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72706860	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72706863	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72706864	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1793036	chr14:96983291-97023059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv1791939	chr14:97001679-97027747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:97002600-97033800	Weak transcription	Fetal Brain Male	brain
5	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:97006600-97024400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:97007600-97035200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:97007600-97036000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:97007800-97034800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:97008000-97036000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:97008200-97033800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:97008200-97035800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:97008200-97039400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:97008400-97023600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:97008400-97025000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:97008400-97025400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:97008400-97033400	Strong transcription	Placenta	Placenta
18	chr14:97008400-97033600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:97008400-97035200	Strong transcription	Dnd41	blood
20	chr14:97008400-97038400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:97008600-97024200	Strong transcription	Liver	Liver
22	chr14:97008600-97024600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr14:97008600-97031400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:97008600-97033200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:97008600-97033800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:97008600-97037000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:97008600-97040200	Strong transcription	Fetal Thymus	thymus
28	chr14:97008800-97033000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:97009000-97029800	Strong transcription	Osteobl	bone
30	chr14:97009600-97034200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:97009600-97037200	Strong transcription	HSMM	muscle
32	chr14:97010200-97040200	Strong transcription	Primary B cells from cord blood	blood
33	chr14:97011000-97031400	Weak transcription	Fetal Heart	heart
34	chr14:97011400-97034200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:97013000-97029400	Strong transcription	Fetal Intestine Large	intestine
36	chr14:97014200-97023000	Strong transcription	NHDF-Ad	bronchial
37	chr14:97015000-97025400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:97016200-97025000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:97016800-97027800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr14:97016800-97039200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:97017400-97023800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr14:97017400-97027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:97017400-97027800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr14:97017400-97030000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:97017400-97032600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:97017400-97035400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:97018200-97029600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:97018400-97023800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:97018400-97034400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:97018600-97024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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