Variant report

Variant	rs13427974
Chromosome Location	chr2:47243523-47243524
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47219377..47221556-chr2:47242383..47245078,2	MCF-7	breast:
2	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
3	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
4	chr2:47240423..47243705-chr2:47401498..47404944,5	MCF-7	breast:
5	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:
6	chr2:47230310..47234237-chr2:47240805..47244981,3	K562	blood:
7	chr2:47241809..47243733-chr2:47418133..47419880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1010724	1.00[AMR][1000 genomes]
rs11884772	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887906	1.00[AMR][1000 genomes]
rs11899789	1.00[AMR][1000 genomes]
rs17036015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036119	1.00[AMR][1000 genomes]
rs2163984	1.00[AMR][1000 genomes]
rs36006218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58086545	1.00[AMR][1000 genomes]
rs6732744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv984532	chr2:47237908-47270533	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv581751	chr2:47243124-47255723	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
6	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:47230200-47302800	Strong transcription	Dnd41	blood
9	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:47232400-47245000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:47232800-47244000	Strong transcription	Esophagus	oesophagus
14	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:47236400-47243600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:47236600-47253600	Strong transcription	Fetal Intestine Small	intestine
18	chr2:47236600-47259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:47236600-47259200	Weak transcription	Fetal Kidney	kidney
20	chr2:47236800-47251600	Weak transcription	Fetal Lung	lung
21	chr2:47237000-47246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:47237000-47247400	Strong transcription	Fetal Stomach	stomach
23	chr2:47237000-47254200	Weak transcription	Ovary	ovary
24	chr2:47237000-47260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:47237200-47249200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:47237400-47245200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:47237600-47244200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:47238000-47244200	Strong transcription	Primary B cells from cord blood	blood
29	chr2:47238000-47247400	Strong transcription	Primary T cells from cord blood	blood
30	chr2:47238200-47244000	Strong transcription	Pancreas	Pancrea
31	chr2:47238200-47244000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:47238200-47253400	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr2:47238200-47253600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:47238200-47253800	Strong transcription	HepG2	liver
35	chr2:47239000-47243600	Strong transcription	GM12878-XiMat	blood
36	chr2:47239400-47249200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:47239600-47244000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:47239800-47243600	Enhancers	Fetal Brain Female	brain
39	chr2:47239800-47246000	Weak transcription	Fetal Heart	heart
40	chr2:47240000-47249800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:47240200-47251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:47240200-47256000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:47240400-47243600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:47240400-47244000	Enhancers	Right Atrium	heart
45	chr2:47240600-47243800	Enhancers	Brain Angular Gyrus	brain
46	chr2:47240600-47248800	Weak transcription	Liver	Liver
47	chr2:47240600-47249200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:47240800-47243600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:47240800-47243600	Enhancers	Brain Substantia Nigra	brain
50	chr2:47240800-47251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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