Variant report

Variant	rs1054240
Chromosome Location	chr14:66209783-66209784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12147874	0.88[EUR][1000 genomes]
rs73268588	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73268601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73270628	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73270635	0.92[EUR][1000 genomes]
rs73270639	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73270640	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73270645	1.00[AMR][1000 genomes];0.92[EUR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
2	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:66189600-66210800	Weak transcription	NHLF	lung
4	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:66191600-66212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:66191800-66210800	Weak transcription	HSMM	muscle
9	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
10	chr14:66192400-66210200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:66192600-66210400	Weak transcription	Right Ventricle	heart
12	chr14:66192800-66210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:66192800-66211800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:66192800-66212200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
16	chr14:66194200-66210600	Weak transcription	Spleen	Spleen
17	chr14:66194400-66210800	Weak transcription	Fetal Stomach	stomach
18	chr14:66194400-66210800	Weak transcription	Lung	lung
19	chr14:66194400-66211000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:66194400-66212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:66195800-66211600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:66199000-66210800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:66199000-66211200	Weak transcription	Aorta	Aorta
24	chr14:66199200-66213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:66199800-66210600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:66200600-66215600	Weak transcription	Brain Substantia Nigra	brain
27	chr14:66201200-66216400	Weak transcription	Fetal Thymus	thymus
28	chr14:66201400-66212000	Weak transcription	HepG2	liver
29	chr14:66201800-66210800	Weak transcription	Brain Germinal Matrix	brain
30	chr14:66201800-66210800	Weak transcription	Esophagus	oesophagus
31	chr14:66201800-66219200	Weak transcription	Brain Anterior Caudate	brain
32	chr14:66202200-66212000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:66202200-66215000	Weak transcription	Psoas Muscle	Psoas
34	chr14:66202800-66210800	Weak transcription	Fetal Brain Male	brain
35	chr14:66204800-66212200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:66205400-66210400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:66205400-66211000	Weak transcription	Fetal Kidney	kidney
38	chr14:66207000-66210600	Weak transcription	Osteobl	bone
39	chr14:66207400-66215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:66207600-66212000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:66207800-66212200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:66208000-66210600	Strong transcription	GM12878-XiMat	blood
43	chr14:66208400-66210200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:66208400-66211000	Strong transcription	Dnd41	blood
45	chr14:66208600-66210400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:66208600-66211000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:66208600-66211000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:66208600-66211000	Strong transcription	Fetal Intestine Large	intestine
49	chr14:66208600-66211200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:66208600-66211200	Strong transcription	Primary hematopoietic stem cells	blood

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