Variant report

Variant	rs4981244
Chromosome Location	chr14:35081589-35081590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131004	0.84[ASN][1000 genomes]
rs10136826	0.94[CEU][hapmap];0.93[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151832	0.93[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10220690	0.86[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10872887	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11156850	0.82[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11620787	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432069	0.86[CHB][hapmap]
rs12432539	0.94[CEU][hapmap];0.93[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12717240	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12880885	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12883317	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs12891984	0.91[ASN][1000 genomes]
rs28537636	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34612921	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4258505	0.80[ASN][1000 genomes]
rs4304943	0.86[CHB][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs4403967	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4598814	0.93[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4612970	0.84[ASN][1000 genomes]
rs55938117	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60370017	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144882	0.91[ASN][1000 genomes]
rs7146283	0.86[ASW][hapmap];0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148910	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149200	0.94[CEU][hapmap];0.93[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151482	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs7151774	0.86[ASW][hapmap];0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153635	0.84[JPT][hapmap]
rs7154505	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs7155411	0.84[ASN][1000 genomes]
rs7158783	0.93[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs72675226	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72675236	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72675245	0.93[ASN][1000 genomes]
rs7493420	0.91[ASN][1000 genomes]
rs7493480	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8008918	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8018552	0.84[ASN][1000 genomes]
rs8018701	0.84[ASN][1000 genomes]
rs8018918	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35045800-35089200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:35053800-35082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:35058400-35089200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:35068600-35089200	Weak transcription	Stomach Mucosa	stomach
9	chr14:35069400-35089400	Weak transcription	Fetal Heart	heart
10	chr14:35070200-35091800	Weak transcription	Psoas Muscle	Psoas
11	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:35073400-35091800	Weak transcription	Fetal Brain Male	brain
13	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:35073800-35088800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:35074000-35090400	Weak transcription	Fetal Kidney	kidney
16	chr14:35074200-35091800	Weak transcription	K562	blood
17	chr14:35075000-35090200	Strong transcription	Fetal Intestine Small	intestine
18	chr14:35075000-35090400	Weak transcription	Hela-S3	cervix
19	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
20	chr14:35077000-35091800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:35077000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
23	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
24	chr14:35077400-35083400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:35077400-35083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:35077400-35083800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:35077400-35085600	Weak transcription	HMEC	breast
28	chr14:35077400-35090200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:35077600-35081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:35077600-35083800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:35077600-35084000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:35077600-35089200	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:35077600-35090200	Weak transcription	Spleen	Spleen
34	chr14:35077600-35090600	Weak transcription	Brain Substantia Nigra	brain
35	chr14:35077600-35091800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:35077600-35091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:35077600-35092200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
40	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:35077800-35084600	Weak transcription	GM12878-XiMat	blood
43	chr14:35077800-35086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:35078000-35081600	Weak transcription	Fetal Lung	lung
45	chr14:35078000-35082200	Weak transcription	Thymus	Thymus
46	chr14:35078000-35084400	Weak transcription	Primary B cells from cord blood	blood
47	chr14:35078000-35084400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:35078000-35084600	Weak transcription	HUVEC	blood vessel
49	chr14:35078000-35085600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:35078000-35085600	Weak transcription	Primary B cells from peripheral blood	blood

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