Variant report

Variant	rs4899381
Chromosome Location	chr14:71544838-71544839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11158889	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17093721	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108769	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108772	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108799	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108983	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41420146	1.00[YRI][hapmap]
rs4899383	0.80[AFR][1000 genomes]
rs4902868	1.00[AMR][1000 genomes]
rs4902869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902876	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55676023	1.00[AMR][1000 genomes]
rs55719012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55932126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56074375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56146244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162958	1.00[AMR][1000 genomes]
rs56176664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56364038	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56370042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56381228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57165551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57780261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57989056	1.00[AMR][1000 genomes]
rs58710947	1.00[AFR][1000 genomes]
rs58835218	1.00[AMR][1000 genomes]
rs59364493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59782613	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60413410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153063	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154284	0.80[AFR][1000 genomes]
rs7160759	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160982	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060596	0.84[AFR][1000 genomes]
rs74061467	1.00[AMR][1000 genomes]
rs74061477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061483	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061485	0.88[AFR][1000 genomes]
rs74061491	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061492	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74063507	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8021150	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
6	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
7	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
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71533600-71545000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:71533800-71545000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr14:71533800-71546400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:71534400-71546200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:71534600-71546400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71535000-71546200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:71535200-71545800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:71535600-71545000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr14:71535600-71545200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:71535600-71545400	Strong transcription	Fetal Intestine Large	intestine
13	chr14:71535600-71545800	Strong transcription	Left Ventricle	heart
14	chr14:71535800-71546400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:71536200-71545000	Strong transcription	Brain Anterior Caudate	brain
16	chr14:71536200-71545400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:71537200-71545000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:71537800-71546400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:71538000-71545800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:71538200-71545000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:71538800-71584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:71539000-71546400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:71539800-71545000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:71539800-71545200	Strong transcription	Brain Substantia Nigra	brain
25	chr14:71539800-71545200	Strong transcription	Placenta	Placenta
26	chr14:71540000-71545400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:71540000-71545400	Strong transcription	Brain Angular Gyrus	brain
28	chr14:71540000-71547000	Strong transcription	Fetal Thymus	thymus
29	chr14:71540200-71545000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:71540200-71545200	Strong transcription	Thymus	Thymus
31	chr14:71540200-71545400	Strong transcription	Ovary	ovary
32	chr14:71540200-71545600	Strong transcription	Fetal Kidney	kidney
33	chr14:71540200-71545800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:71540200-71546000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr14:71540200-71546400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:71540400-71545800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr14:71540400-71546200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:71540600-71545400	Strong transcription	NHDF-Ad	bronchial
39	chr14:71541600-71545800	Strong transcription	Lung	lung
40	chr14:71542400-71546400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:71542600-71545000	Strong transcription	HSMMtube	muscle
42	chr14:71542600-71545200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:71542600-71545400	Strong transcription	Hela-S3	cervix
44	chr14:71542600-71545400	Strong transcription	HSMM	muscle
45	chr14:71542600-71545400	Strong transcription	NH-A	brain
46	chr14:71542600-71545600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:71542600-71545600	Strong transcription	Colon Smooth Muscle	Colon
48	chr14:71542600-71545800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:71542800-71546000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr14:71543000-71545000	Strong transcription	Psoas Muscle	Psoas

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