Variant report

Variant	rs8003811
Chromosome Location	chr14:66211250-66211251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1003401	0.93[ASN][1000 genomes]
rs1054218	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1950557	0.95[ASN][1000 genomes]
rs1984855	0.93[ASN][1000 genomes]
rs2236067	0.91[ASN][1000 genomes]
rs35206478	0.97[ASN][1000 genomes]
rs3742597	0.99[ASN][1000 genomes]
rs4080329	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58102398	0.90[ASN][1000 genomes]
rs59853675	0.87[ASN][1000 genomes]
rs60273099	0.95[ASN][1000 genomes]
rs60734251	0.90[ASN][1000 genomes]
rs61298903	0.93[ASN][1000 genomes]
rs6573625	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67662065	0.86[ASN][1000 genomes]
rs7143026	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148737	0.93[ASN][1000 genomes]
rs7156078	0.93[ASN][1000 genomes]
rs7158556	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs761830	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968540	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:66191600-66212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
4	chr14:66192800-66211800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:66192800-66212200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
7	chr14:66194400-66212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:66195800-66211600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:66199200-66213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:66200600-66215600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:66201200-66216400	Weak transcription	Fetal Thymus	thymus
12	chr14:66201400-66212000	Weak transcription	HepG2	liver
13	chr14:66201800-66219200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:66202200-66212000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:66202200-66215000	Weak transcription	Psoas Muscle	Psoas
16	chr14:66204800-66212200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:66207400-66215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:66207600-66212000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:66207800-66212200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:66208600-66211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:66209400-66211800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:66209400-66212000	Weak transcription	Placenta	Placenta
23	chr14:66209400-66212200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:66209400-66212400	Weak transcription	NH-A	brain
25	chr14:66209400-66213400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:66209400-66214800	Weak transcription	Primary B cells from cord blood	blood
27	chr14:66209400-66215000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:66209400-66217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:66209400-66217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:66209400-66219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:66209600-66211400	Weak transcription	HUVEC	blood vessel
32	chr14:66209600-66212000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:66209600-66212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:66209600-66212400	Weak transcription	NHDF-Ad	bronchial
35	chr14:66209600-66213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:66209600-66213200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:66209600-66213800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:66209600-66213800	Weak transcription	Ovary	ovary
39	chr14:66209600-66214600	Weak transcription	HSMMtube	muscle
40	chr14:66209600-66215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:66209600-66216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:66209600-66217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:66209600-66217800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:66209600-66219000	Weak transcription	Thymus	Thymus
45	chr14:66209600-66219200	Weak transcription	Stomach Mucosa	stomach
46	chr14:66209800-66212000	Weak transcription	Left Ventricle	heart
47	chr14:66210200-66211800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:66210400-66212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:66210400-66212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:66210400-66213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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