Variant report

Variant	rs11624839
Chromosome Location	chr14:39766612-39766613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130008	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10133417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137052	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10137352	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10137905	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10138024	0.84[ASN][1000 genomes]
rs10148574	0.81[ASN][1000 genomes]
rs10148740	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149352	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10151659	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10162550	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1040810	0.84[ASN][1000 genomes]
rs10872920	0.81[ASN][1000 genomes]
rs11157053	0.86[ASN][1000 genomes]
rs11157054	0.86[ASN][1000 genomes]
rs11157057	0.80[ASN][1000 genomes]
rs11157058	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11620695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11621264	0.82[EUR][1000 genomes]
rs11624144	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626679	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627580	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12432397	0.86[ASN][1000 genomes]
rs12587713	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588386	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588728	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12880609	0.84[ASN][1000 genomes]
rs12883781	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887525	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12892482	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12896838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1570132	0.86[ASN][1000 genomes]
rs1594842	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17109073	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17109100	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082635	0.81[ASN][1000 genomes]
rs2274396	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2274399	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28626340	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35065854	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35184650	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35201135	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36057593	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57781286	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7144848	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7148150	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150735	0.82[EUR][1000 genomes]
rs7151835	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004348	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8004716	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007252	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014123	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018717	0.86[ASN][1000 genomes]
rs956108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956109	0.86[ASN][1000 genomes]
rs9671943	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9671953	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
4	nsv977461	chr14:39762414-39770640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
3	chr14:39746200-39776600	Weak transcription	K562	blood
4	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
5	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
7	chr14:39752600-39769000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
9	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:39755400-39783400	Strong transcription	Liver	Liver
11	chr14:39755600-39767600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:39755600-39780400	Strong transcription	HepG2	liver
13	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
17	chr14:39756400-39773200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:39756800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:39757400-39771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:39758400-39767600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:39758600-39767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:39759400-39770200	Weak transcription	Colonic Mucosa	Colon
30	chr14:39759400-39801800	Weak transcription	NHLF	lung
31	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:39760600-39767400	Strong transcription	Adipose Nuclei	Adipose
33	chr14:39760600-39767400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:39760800-39771200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:39761600-39773400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:39761800-39771800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:39762200-39767000	Strong transcription	Osteobl	bone
39	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
41	chr14:39762600-39772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:39762600-39774400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:39763000-39767200	Strong transcription	Dnd41	blood
44	chr14:39763200-39766800	Strong transcription	Fetal Thymus	thymus
45	chr14:39763200-39767000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:39763200-39772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:39763400-39767000	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:39763400-39767000	Strong transcription	Left Ventricle	heart
49	chr14:39763400-39767000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:39763400-39767200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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