Variant report

Variant	rs1275743
Chromosome Location	chr14:70128616-70128617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70127448..70130324-chr14:70160379..70163129,3	K562	blood:
2	chr14:70127448..70130324-chr14:70160379..70163129,2	K562	blood:
3	chr14:70127632..70129868-chr14:70236583..70239484,2	MCF-7	breast:
4	chr14:70128380..70130594-chr14:70135928..70138718,3	MCF-7	breast:
5	chr14:70124234..70125966-chr14:70127916..70129435,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10151991	0.81[AFR][1000 genomes]
rs11158811	0.94[AFR][1000 genomes]
rs11624394	0.81[AFR][1000 genomes]
rs1275741	1.00[AFR][1000 genomes]
rs1275818	0.94[AFR][1000 genomes]
rs1275819	0.94[AFR][1000 genomes]
rs1275820	0.94[AFR][1000 genomes]
rs1275821	0.94[AFR][1000 genomes]
rs1275822	0.88[AFR][1000 genomes]
rs1957366	0.94[AFR][1000 genomes]
rs2181051	1.00[AFR][1000 genomes]
rs2208653	0.94[AFR][1000 genomes]
rs4899307	0.82[AFR][1000 genomes]
rs4902729	0.81[AFR][1000 genomes]
rs4902731	0.81[AFR][1000 genomes]
rs4902740	0.88[AFR][1000 genomes]
rs6573891	0.81[AFR][1000 genomes]
rs762050	0.94[AFR][1000 genomes]
rs8018613	0.81[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70120800-70129200	Weak transcription	Fetal Kidney	kidney
4	chr14:70121400-70129200	Weak transcription	A549	lung
5	chr14:70122200-70129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:70123600-70129200	Strong transcription	Primary B cells from cord blood	blood
8	chr14:70123800-70137600	Weak transcription	Dnd41	blood
9	chr14:70124600-70129600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:70124600-70129800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:70124600-70130400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:70125000-70129200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:70125200-70131400	Genic enhancers	GM12878-XiMat	blood
14	chr14:70125400-70129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:70125600-70128800	Weak transcription	Hela-S3	cervix
16	chr14:70125600-70129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:70125600-70129400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:70125600-70129400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:70125600-70132600	Weak transcription	HSMMtube	muscle
20	chr14:70125800-70128800	Genic enhancers	Fetal Intestine Small	intestine
21	chr14:70125800-70129200	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:70125800-70129600	Weak transcription	Fetal Heart	heart
23	chr14:70125800-70130000	Weak transcription	Colonic Mucosa	Colon
24	chr14:70125800-70131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:70125800-70132200	Enhancers	Stomach Mucosa	stomach
26	chr14:70125800-70133400	Weak transcription	HSMM	muscle
27	chr14:70125800-70133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:70126000-70129200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:70126000-70130600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70126200-70129800	Weak transcription	NH-A	brain
31	chr14:70127000-70129400	Weak transcription	NHLF	lung
32	chr14:70127200-70129000	Genic enhancers	Lung	lung
33	chr14:70127200-70129400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:70127200-70130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:70127200-70131600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:70127200-70133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:70127400-70128800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:70127400-70129000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:70127400-70129200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:70127400-70129200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:70127400-70129200	Weak transcription	NHEK	skin
43	chr14:70127400-70130600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:70127400-70133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:70127400-70133800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:70127400-70134200	Enhancers	Colon Smooth Muscle	Colon
47	chr14:70127400-70134200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:70127600-70129000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:70127600-70130000	Weak transcription	Fetal Brain Female	brain

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