Variant report

Variant	rs13395039
Chromosome Location	chr2:187471290-187471291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187350920..187353075-chr2:187470374..187472407,2	K562	blood:
2	chr2:187470425..187472217-chr2:187482022..187483885,2	MCF-7	breast:
3	chr2:187438845..187441409-chr2:187470852..187472926,2	K562	blood:
4	chr2:187470424..187473004-chr2:187473894..187476819,4	K562	blood:
5	chr2:187470424..187473004-chr2:187473894..187475620,2	K562	blood:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10170164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196330	0.87[AFR][1000 genomes]
rs13421683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537983	1.00[AFR][1000 genomes]
rs9288133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456000-187488200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
3	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:187456400-187488200	Weak transcription	Fetal Thymus	thymus
5	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
7	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:187456800-187493400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:187457200-187506000	Weak transcription	Liver	Liver
11	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
12	chr2:187457400-187472200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:187458600-187477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:187459400-187505600	Weak transcription	NHLF	lung
17	chr2:187460200-187477200	Weak transcription	GM12878-XiMat	blood
18	chr2:187460200-187506200	Weak transcription	Small Intestine	intestine
19	chr2:187460800-187475600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:187460800-187486800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:187462000-187471800	Weak transcription	HMEC	breast
22	chr2:187462000-187477600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:187462600-187475800	Weak transcription	Lung	lung
24	chr2:187462600-187500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:187462800-187515400	Weak transcription	Gastric	stomach
26	chr2:187464400-187477000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:187464800-187472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:187465000-187473400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:187465800-187529200	Weak transcription	Dnd41	blood
31	chr2:187466600-187472400	Strong transcription	HepG2	liver
32	chr2:187466800-187471400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:187466800-187473000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
35	chr2:187467000-187474200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:187467600-187506000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:187468000-187472200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:187468400-187471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:187468800-187471600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:187468800-187504000	Weak transcription	NHDF-Ad	bronchial
43	chr2:187469000-187487200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:187469000-187501800	Weak transcription	Fetal Intestine Small	intestine
45	chr2:187469400-187471800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:187469400-187472000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:187469400-187473000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:187469400-187487000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:187469600-187471400	Strong transcription	NHEK	skin
50	chr2:187469600-187471600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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