Variant report

Variant	rs12889463
Chromosome Location	chr14:71393316-71393317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12100735	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12880570	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12881446	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12884478	0.88[AMR][1000 genomes]
rs12892577	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892737	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12893638	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897490	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12897499	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17108917	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17108930	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2240532	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs2240534	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs2286308	0.82[AMR][1000 genomes]
rs2286309	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs2286313	0.82[AMR][1000 genomes]
rs2286315	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34219222	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34548016	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34761065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35432764	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35561518	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35614357	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35719396	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35806656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36556	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs36557	0.83[CHB][hapmap];0.80[AMR][1000 genomes]
rs36566	0.80[AMR][1000 genomes]
rs40356	0.94[AMR][1000 genomes]
rs56832842	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57537113	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58435681	0.88[AMR][1000 genomes]
rs59216102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71425301	0.88[AMR][1000 genomes]
rs8022928	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:71376000-71401000	Weak transcription	Lung	lung
4	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
8	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
10	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
12	chr14:71380600-71394200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:71381400-71394000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:71381600-71394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:71382400-71394200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:71384200-71395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:71386800-71396800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:71386800-71400600	Weak transcription	Fetal Stomach	stomach
22	chr14:71387000-71396600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:71387000-71398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:71387200-71408400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:71388200-71402000	Weak transcription	HSMM	muscle
26	chr14:71388200-71410400	Weak transcription	Thymus	Thymus
27	chr14:71388400-71400800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:71388800-71394400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:71388800-71396800	Weak transcription	HMEC	breast
30	chr14:71388800-71397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:71388800-71400200	Weak transcription	Fetal Intestine Small	intestine
32	chr14:71388800-71400400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:71388800-71400600	Weak transcription	NHLF	lung
34	chr14:71388800-71408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:71389000-71393800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:71389000-71396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:71389000-71396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:71389000-71396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:71389000-71396800	Weak transcription	NHEK	skin
40	chr14:71389000-71400400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:71389200-71398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:71389800-71393600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:71389800-71396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:71389800-71396800	Weak transcription	NHDF-Ad	bronchial
45	chr14:71389800-71400600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:71390200-71394600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr14:71390600-71394600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:71391400-71393400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr14:71391600-71394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:71392200-71393400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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