Variant report

Variant	rs10140985
Chromosome Location	chr14:35742486-35742487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10130007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10132938	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133402	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10134499	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10134666	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10136494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10137095	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10137440	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10137488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10140636	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10141688	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10143083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10147734	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10148143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10148234	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10148868	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148872	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10149412	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10467707	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10715	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11156880	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11547365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11851831	0.90[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs12323542	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17458583	0.82[AFR][1000 genomes]
rs17597267	0.91[ASW][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap]
rs17597281	0.91[ASW][hapmap];0.80[YRI][hapmap]
rs2277460	0.82[AFR][1000 genomes]
rs2415281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461608	0.95[AFR][1000 genomes]
rs28522717	0.95[AFR][1000 genomes]
rs28625199	1.00[AMR][1000 genomes]
rs55747728	0.85[AMR][1000 genomes]
rs56762985	1.00[AMR][1000 genomes]
rs57606486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58058174	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58177251	0.85[AMR][1000 genomes]
rs59708026	0.85[AMR][1000 genomes]
rs59954445	0.85[AMR][1000 genomes]
rs60206834	0.85[AMR][1000 genomes]
rs7140912	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7141690	0.85[AMR][1000 genomes]
rs7145488	0.94[GIH][hapmap];0.85[AMR][1000 genomes]
rs7154775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7158592	0.85[AMR][1000 genomes]
rs8004205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014594	0.82[AFR][1000 genomes]
rs8017330	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes]
rs8017676	0.83[ASW][hapmap]
rs8018707	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs9322944	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9322945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9322946	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS 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 target site	50 gene(s)	inside rSNPs	diseases
5	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv2754534	chr14:35690978-35744839	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
5	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
7	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:35717600-35753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:35720000-35744800	Weak transcription	Fetal Brain Male	brain
10	chr14:35722000-35754000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
13	chr14:35727200-35742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:35727200-35744200	Weak transcription	Fetal Heart	heart
15	chr14:35727200-35754600	Weak transcription	NHDF-Ad	bronchial
16	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
17	chr14:35727200-35761000	Weak transcription	NHLF	lung
18	chr14:35727400-35754000	Weak transcription	HUVEC	blood vessel
19	chr14:35727600-35743400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:35728000-35750200	Weak transcription	Ovary	ovary
21	chr14:35728400-35743200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:35728400-35748400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:35728400-35754600	Weak transcription	K562	blood
24	chr14:35728400-35755000	Weak transcription	Colonic Mucosa	Colon
25	chr14:35729800-35745400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:35730000-35742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:35730000-35747200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:35730000-35751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:35730200-35742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
31	chr14:35730400-35747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:35730400-35753400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:35730600-35744400	Weak transcription	A549	lung
34	chr14:35731800-35756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:35732800-35742600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:35733400-35747200	Weak transcription	HSMMtube	muscle
37	chr14:35733600-35742600	Weak transcription	Brain Anterior Caudate	brain
38	chr14:35734000-35745400	Weak transcription	Hela-S3	cervix
39	chr14:35734400-35743400	Weak transcription	Esophagus	oesophagus
40	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
41	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:35734600-35749400	Weak transcription	Fetal Kidney	kidney
43	chr14:35734600-35750400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:35734600-35752400	Weak transcription	NH-A	brain
45	chr14:35734800-35744200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:35735600-35743600	Strong transcription	HepG2	liver
47	chr14:35735600-35744000	Strong transcription	Primary T cells from cord blood	blood
48	chr14:35735600-35745800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:35735600-35747400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:35735800-35742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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