Variant report

Variant	rs2192825
Chromosome Location	chr2:188390819-188390820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188389696..188391580-chr2:188402374..188405162,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10185793	1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs10187989	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.86[ASN][1000 genomes]
rs12986705	0.87[ASN][1000 genomes]
rs12986933	0.88[ASN][1000 genomes]
rs12990547	0.86[ASN][1000 genomes]
rs2192824	0.84[GIH][hapmap]
rs34091242	0.85[ASN][1000 genomes]
rs4380190	0.92[ASN][1000 genomes]
rs4538162	0.85[ASN][1000 genomes]
rs4567898	0.93[ASN][1000 genomes]
rs4667169	0.94[ASN][1000 genomes]
rs58412611	0.95[ASN][1000 genomes]
rs60432325	0.95[ASN][1000 genomes]
rs6715469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6730608	0.87[ASN][1000 genomes]
rs71432495	0.95[ASN][1000 genomes]
rs72489102	0.86[ASN][1000 genomes]
rs7594359	0.83[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.88[MKK][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs7601629	0.84[ASN][1000 genomes]
rs7603416	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv3501345	chr2:188382857-188390955	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3501344	chr2:188383607-188390855	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2192825	OSGEPL1	cis	parietal	SCAN
rs2192825	C2orf88	cis	parietal	SCAN
rs2192825	ASNSD1	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
4	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
5	chr2:188382600-188391600	Weak transcription	Ovary	ovary
6	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:188383400-188391200	Strong transcription	HSMM	muscle
8	chr2:188384400-188391200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:188384600-188391600	Weak transcription	Adipose Nuclei	Adipose
10	chr2:188384800-188391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:188384800-188391600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:188385200-188391400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:188385200-188397000	Weak transcription	Pancreas	Pancrea
14	chr2:188385200-188397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:188385200-188397200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:188385200-188406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:188385400-188391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:188385400-188391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:188385400-188394000	Weak transcription	Placenta	Placenta
20	chr2:188385400-188396400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:188385400-188397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:188385400-188397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:188385400-188397000	Weak transcription	Fetal Stomach	stomach
24	chr2:188385400-188397200	Weak transcription	Fetal Intestine Small	intestine
25	chr2:188385400-188397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:188385800-188395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:188385800-188397000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:188386000-188394200	Weak transcription	K562	blood
29	chr2:188386200-188391600	Weak transcription	Fetal Lung	lung
30	chr2:188386600-188391000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:188386800-188391400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:188387000-188397000	Weak transcription	Lung	lung
33	chr2:188387000-188406000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:188387200-188391200	Weak transcription	Liver	Liver
35	chr2:188387200-188397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:188387200-188398600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:188387200-188406000	Weak transcription	HSMMtube	muscle
38	chr2:188387400-188391000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:188387400-188391600	Weak transcription	NH-A	brain
40	chr2:188387600-188397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:188389000-188391400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:188389200-188391800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:188389400-188391600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:188389600-188392400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:188389800-188392400	Enhancers	Osteobl	bone
46	chr2:188389800-188392600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:188390000-188391600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:188390000-188391800	Genic enhancers	HUVEC	blood vessel
49	chr2:188390000-188393600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:188390000-188398400	Genic enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links