Variant report

Variant	rs56002959
Chromosome Location	chr14:70135090-70135091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
2	chr14:70125594..70128080-chr14:70133461..70135976,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55870632	1.00[AMR][1000 genomes]
rs55988102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes]
rs56956469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes]
rs74060237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes]
rs74061864	1.00[AMR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:70128400-70136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
11	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:70130000-70148800	Weak transcription	NHEK	skin
14	chr14:70130200-70135200	Enhancers	Right Atrium	heart
15	chr14:70130200-70136800	Weak transcription	Fetal Kidney	kidney
16	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:70130400-70136600	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:70130400-70138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:70130400-70139200	Weak transcription	Gastric	stomach
20	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
21	chr14:70132000-70136400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:70132200-70137400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:70132400-70137400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:70133000-70136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:70133000-70136400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:70133000-70136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:70133000-70137000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:70133000-70137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:70133200-70135800	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:70133600-70135600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr14:70133600-70137200	Genic enhancers	Primary B cells from cord blood	blood
32	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
33	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:70134000-70136000	Weak transcription	HSMM	muscle
36	chr14:70134000-70136200	Weak transcription	Fetal Intestine Large	intestine
37	chr14:70134000-70136400	Weak transcription	Liver	Liver
38	chr14:70134000-70136400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:70134000-70136600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:70134000-70136600	Weak transcription	NH-A	brain
41	chr14:70134000-70136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:70134000-70136800	Weak transcription	Fetal Stomach	stomach
43	chr14:70134000-70136800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:70134000-70137000	Weak transcription	HepG2	liver
45	chr14:70134000-70137000	Weak transcription	K562	blood
46	chr14:70134000-70137200	Weak transcription	HSMMtube	muscle
47	chr14:70134000-70137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:70134000-70137800	Weak transcription	HMEC	breast
49	chr14:70134000-70138200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:70134000-70139200	Weak transcription	Ovary	ovary

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