Variant report

Variant	rs9989187
Chromosome Location	chr14:71350692-71350693
allele	C/T
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:23)

rs_ID	r²[population]
rs10129880	1.00[AMR][1000 genomes]
rs10136634	1.00[AFR][1000 genomes]
rs10136814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139846	1.00[AMR][1000 genomes]
rs10150546	1.00[AMR][1000 genomes]
rs10150988	1.00[AMR][1000 genomes]
rs13379253	1.00[AMR][1000 genomes]
rs17093725	1.00[AMR][1000 genomes]
rs17108684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108903	1.00[AMR][1000 genomes]
rs17108937	1.00[AMR][1000 genomes]
rs17108941	1.00[AMR][1000 genomes]
rs17108961	1.00[AMR][1000 genomes]
rs17108970	1.00[AMR][1000 genomes]
rs17108977	1.00[AFR][1000 genomes]
rs28516802	1.00[AMR][1000 genomes]
rs28534442	1.00[AMR][1000 genomes]
rs28742977	1.00[AMR][1000 genomes]
rs28762775	1.00[AMR][1000 genomes]
rs28838938	1.00[AMR][1000 genomes]
rs9323554	1.00[AMR][1000 genomes]
rs9323555	1.00[AMR][1000 genomes]
rs9806048	1.00[AMR][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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71339600-71354600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71340800-71351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:71348200-71352800	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:71348600-71352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:71348600-71353000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:71348800-71354600	Weak transcription	Small Intestine	intestine
7	chr14:71349000-71353400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:71349200-71351800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:71349200-71352400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:71349200-71353200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:71349400-71352800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:71349400-71353200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:71349600-71351800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:71349600-71352000	Enhancers	HMEC	breast
15	chr14:71349600-71352000	Enhancers	NHEK	skin
16	chr14:71349600-71352400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:71349600-71352400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:71349600-71352600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:71349600-71352800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:71349600-71353200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:71349600-71353200	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:71349600-71353400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:71349800-71351800	Enhancers	NH-A	brain
24	chr14:71349800-71352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:71349800-71352000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:71349800-71356000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr14:71349800-71356200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:71350000-71351200	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:71350000-71351400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:71350000-71353200	Weak transcription	Thymus	Thymus
31	chr14:71350000-71356200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:71350200-71351000	Enhancers	GM12878-XiMat	blood
33	chr14:71350200-71351200	Weak transcription	Fetal Thymus	thymus
34	chr14:71350200-71353400	Weak transcription	Hela-S3	cervix
35	chr14:71350200-71354200	Weak transcription	HSMMtube	muscle
36	chr14:71350400-71350800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:71350400-71350800	Enhancers	Lung	lung
38	chr14:71350400-71353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:71350400-71353800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:71350400-71353800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:71350400-71353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:71350400-71354400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:71350400-71354400	Weak transcription	HSMM	muscle
44	chr14:71350600-71350800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:71350600-71351000	Weak transcription	Primary T cells from cord blood	blood
46	chr14:71350600-71351000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:71350600-71352200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:71350600-71352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:71350600-71352800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:71350600-71353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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