Variant report

Variant	rs2144967
Chromosome Location	chr14:63890536-63890537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63881965..63883896-chr14:63890081..63891991,2	K562	blood:
2	chr14:63881511..63883896-chr14:63890081..63891913,2	K562	blood:
3	chr14:63890138..63892855-chr14:63894458..63896417,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12101035	0.98[EUR][1000 genomes]
rs1255615	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17101157	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17101158	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17101167	0.83[CHB][hapmap]
rs17225133	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17225301	0.83[CHB][hapmap]
rs17824991	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17825003	0.83[CHB][hapmap]
rs17825015	0.83[CHB][hapmap]
rs17825021	0.83[CHB][hapmap]
rs17825057	0.83[CHB][hapmap]
rs17825063	0.83[CHB][hapmap]
rs17825081	0.83[CHB][hapmap]
rs2144966	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2144968	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2180493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408721	0.98[EUR][1000 genomes]
rs28583743	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3783742	0.83[CHB][hapmap]
rs4147457	0.83[CHB][hapmap]
rs61995011	0.98[EUR][1000 genomes]
rs61995012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573515	1.00[CEU][hapmap]
rs7140400	0.90[CHB][hapmap]
rs7141832	1.00[CEU][hapmap]
rs8023046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
2	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
4	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:63852600-63899000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:63854000-63893400	Weak transcription	Fetal Brain Male	brain
8	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:63858400-63900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:63858600-63891400	Weak transcription	Osteobl	bone
11	chr14:63859800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:63862000-63902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:63862200-63897800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:63862200-63902600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:63862200-63903600	Weak transcription	HMEC	breast
16	chr14:63862400-63894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:63871800-63900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:63872000-63898200	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:63872200-63901200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:63872600-63899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:63873800-63890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:63874000-63892200	Weak transcription	Fetal Kidney	kidney
23	chr14:63877400-63894400	Weak transcription	Spleen	Spleen
24	chr14:63877400-63903200	Weak transcription	Aorta	Aorta
25	chr14:63877800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:63878600-63899000	Weak transcription	Fetal Stomach	stomach
27	chr14:63879200-63891400	Weak transcription	Esophagus	oesophagus
28	chr14:63879400-63894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:63879400-63894800	Weak transcription	Ovary	ovary
30	chr14:63880800-63902000	Weak transcription	NHLF	lung
31	chr14:63880800-63902600	Weak transcription	Lung	lung
32	chr14:63880800-63904400	Weak transcription	NHEK	skin
33	chr14:63881000-63900200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:63881200-63891000	Weak transcription	A549	lung
35	chr14:63881200-63898600	Weak transcription	Brain Germinal Matrix	brain
36	chr14:63881400-63902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:63883600-63898200	Weak transcription	Stomach Mucosa	stomach
38	chr14:63886000-63902000	Weak transcription	Fetal Intestine Small	intestine
39	chr14:63887000-63891600	Weak transcription	NHDF-Ad	bronchial
40	chr14:63887000-63893200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:63887000-63901200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:63888200-63902200	Weak transcription	Adipose Nuclei	Adipose
45	chr14:63888400-63891000	Weak transcription	HepG2	liver
46	chr14:63888400-63891400	Weak transcription	Placenta	Placenta
47	chr14:63888400-63893600	Weak transcription	Fetal Thymus	thymus
48	chr14:63888400-63895000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:63888400-63900400	Weak transcription	Liver	Liver
50	chr14:63888400-63902000	Weak transcription	Duodenum Mucosa	Duodenum

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