Variant report

Variant	rs7608869
Chromosome Location	chr2:37157672-37157673
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2372787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6544048	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7578609	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv962523	chr2:37143222-37171714	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv963787	chr2:37150704-37158383	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv828942	chr2:37155968-37162931	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7608869	STRN	cis	Esophagus Mucosa	GTEx
rs7608869	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37105000-37164600	Weak transcription	Lung	lung
2	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
3	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
4	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
5	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
6	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
8	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:37140600-37157800	Weak transcription	Left Ventricle	heart
11	chr2:37140800-37158000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:37140800-37158200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:37141400-37158200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:37142000-37178400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:37142000-37178800	Weak transcription	Primary B cells from cord blood	blood
16	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:37143800-37191800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:37144000-37157800	Weak transcription	K562	blood
19	chr2:37150200-37191800	Weak transcription	Fetal Thymus	thymus
20	chr2:37152200-37164200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:37152400-37177800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:37152400-37191800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:37152600-37158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:37153800-37158000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:37153800-37158200	Weak transcription	Fetal Lung	lung
26	chr2:37153800-37158200	Weak transcription	NH-A	brain
27	chr2:37153800-37160800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:37153800-37166800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:37154000-37158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:37154000-37158200	Weak transcription	NHDF-Ad	bronchial
31	chr2:37154000-37178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:37154200-37157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:37154200-37158000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:37154200-37158000	Weak transcription	NHLF	lung
35	chr2:37154200-37158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:37154200-37177600	Weak transcription	Primary T cells from cord blood	blood
37	chr2:37154200-37179400	Weak transcription	Brain Anterior Caudate	brain
38	chr2:37154400-37157800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:37154400-37157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:37154400-37157800	Weak transcription	A549	lung
41	chr2:37154400-37158000	Weak transcription	HSMM	muscle
42	chr2:37154400-37158400	Weak transcription	Hela-S3	cervix
43	chr2:37154600-37157800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:37154600-37157800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:37154600-37158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:37154600-37178800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37154600-37179000	Weak transcription	Esophagus	oesophagus
48	chr2:37154600-37191800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:37154800-37178200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:37154800-37178800	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links