Variant report

Variant	rs6571688
Chromosome Location	chr14:35242633-35242634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10147894	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11628471	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200394	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1200400	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200401	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200402	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200412	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1210975	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1953430	0.80[EUR][1000 genomes]
rs1959150	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959151	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959155	0.81[EUR][1000 genomes]
rs1959156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959157	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959158	0.81[EUR][1000 genomes]
rs1959159	0.81[EUR][1000 genomes]
rs2184621	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2275146	0.81[EUR][1000 genomes]
rs2275148	0.80[EUR][1000 genomes]
rs3783317	0.81[EUR][1000 genomes]
rs56742442	0.81[EUR][1000 genomes]
rs7145412	0.80[EUR][1000 genomes]
rs7149749	0.80[EUR][1000 genomes]
rs7157311	0.80[EUR][1000 genomes]
rs9743779	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv523492	chr14:35229680-35242828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:35221000-35253200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr14:35221000-35255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:35221200-35262000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:35221600-35255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:35221600-35258800	Strong transcription	Dnd41	blood
10	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:35226200-35252600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:35226400-35267000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:35227600-35255600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:35227600-35267000	Weak transcription	Stomach Mucosa	stomach
17	chr14:35228000-35264600	Weak transcription	Brain Substantia Nigra	brain
18	chr14:35230000-35267000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:35230600-35250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
21	chr14:35232000-35269800	Weak transcription	Fetal Heart	heart
22	chr14:35232600-35267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
24	chr14:35233000-35251400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:35234000-35248000	Weak transcription	Colonic Mucosa	Colon
26	chr14:35234000-35252800	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:35234200-35244600	Weak transcription	Right Ventricle	heart
28	chr14:35234200-35244600	Weak transcription	NHLF	lung
29	chr14:35234200-35267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:35234200-35267000	Weak transcription	Pancreas	Pancrea
31	chr14:35234200-35271400	Weak transcription	Brain Angular Gyrus	brain
32	chr14:35234200-35271400	Weak transcription	Brain Anterior Caudate	brain
33	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
34	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:35234400-35243000	Weak transcription	Adipose Nuclei	Adipose
37	chr14:35234400-35243200	Weak transcription	Fetal Lung	lung
38	chr14:35234400-35243800	Weak transcription	Brain Germinal Matrix	brain
39	chr14:35234400-35243800	Weak transcription	Thymus	Thymus
40	chr14:35234400-35244200	Weak transcription	Small Intestine	intestine
41	chr14:35234400-35244600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:35234400-35244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:35234400-35244600	Weak transcription	HSMMtube	muscle
44	chr14:35234400-35244800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:35234400-35244800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:35234400-35245200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:35234400-35245200	Weak transcription	Gastric	stomach
48	chr14:35234400-35245200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:35234400-35245200	Weak transcription	Spleen	Spleen
50	chr14:35234400-35252600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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