Variant report

Variant	rs2170240
Chromosome Location	chr2:180725310-180725311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169684	0.81[EUR][1000 genomes]
rs10930887	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12328338	0.85[ASN][1000 genomes]
rs1383413	0.94[ASN][1000 genomes]
rs1486233	0.85[ASN][1000 genomes]
rs16867045	0.94[ASN][1000 genomes]
rs187745	0.81[EUR][1000 genomes]
rs194674	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219670	0.85[ASN][1000 genomes]
rs2367797	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259831	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs259833	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs259849	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2630539	0.81[EUR][1000 genomes];0.86[ASN][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180723600-180726800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:180724200-180726600	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:180724400-180725600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr2:180724400-180727000	Active TSS	Right Atrium	heart
5	chr2:180724600-180726600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:180724600-180726600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:180724600-180726800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:180724600-180726800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:180724600-180726800	Bivalent/Poised TSS	NHDF-Ad	bronchial
10	chr2:180724600-180727000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr2:180724600-180727000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:180724600-180727200	Active TSS	Colon Smooth Muscle	Colon
13	chr2:180724600-180727400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:180724800-180725400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr2:180724800-180725400	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr2:180724800-180725600	Flanking Active TSS	Liver	Liver
17	chr2:180724800-180725600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
18	chr2:180724800-180725600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
19	chr2:180724800-180726400	Bivalent/Poised TSS	Osteobl	bone
20	chr2:180724800-180726600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:180724800-180726600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
22	chr2:180724800-180726600	Active TSS	Brain Angular Gyrus	brain
23	chr2:180724800-180726800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:180724800-180726800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:180724800-180726800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:180724800-180726800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:180724800-180726800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr2:180724800-180726800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
29	chr2:180724800-180726800	Bivalent/Poised TSS	HSMM	muscle
30	chr2:180724800-180727000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:180725000-180725400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr2:180725000-180725400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr2:180725000-180725400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr2:180725000-180725400	Bivalent Enhancer	Aorta	Aorta
35	chr2:180725000-180725400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr2:180725000-180725400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
37	chr2:180725000-180725400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr2:180725000-180725400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:180725000-180725400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr2:180725000-180725400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:180725000-180725400	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr2:180725000-180725400	Bivalent Enhancer	HMEC	breast
43	chr2:180725000-180725400	Flanking Bivalent TSS/Enh	NHLF	lung
44	chr2:180725000-180725600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:180725000-180725600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:180725000-180725600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr2:180725000-180725600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:180725000-180725600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:180725000-180725600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr2:180725000-180725600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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