Variant report

Variant	rs62200581
Chromosome Location	chr2:187362910-187362911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187362564..187365025-chr2:187405176..187407721,2	K562	blood:
2	chr2:187352160..187354477-chr2:187361786..187364849,3	MCF-7	breast:
3	chr2:187361854..187365776-chr2:187367808..187372430,5	K562	blood:

Variant related genes	Relation type
ENSG00000224323	Chromatin interaction
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10164423	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170460	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178380	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190643	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201678	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206285	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208364	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383146	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384032	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389341	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390957	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396881	0.91[EUR][1000 genomes]
rs13398794	1.00[ASN][1000 genomes]
rs13400819	1.00[ASN][1000 genomes]
rs13411835	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413555	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418456	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827842	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103051	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197201	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197202	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197203	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197214	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197216	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197217	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197218	1.00[ASN][1000 genomes]
rs62197222	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197223	1.00[ASN][1000 genomes]
rs62197225	0.85[EUR][1000 genomes]
rs62197226	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197227	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197253	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197255	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197257	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62198607	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198612	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198652	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198656	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62198659	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199460	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199522	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199527	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200577	1.00[ASN][1000 genomes]
rs62200580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200583	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979177	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979185	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187352200-187365400	Weak transcription	Lung	lung
3	chr2:187354000-187365200	Weak transcription	Thymus	Thymus
4	chr2:187355600-187365400	Weak transcription	Gastric	stomach
5	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
6	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
10	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:187357600-187386200	Strong transcription	Dnd41	blood
13	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
18	chr2:187358800-187367800	Weak transcription	Psoas Muscle	Psoas
19	chr2:187358800-187377200	Strong transcription	HepG2	liver
20	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
21	chr2:187359600-187363200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:187359800-187379800	Strong transcription	HSMM	muscle
30	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:187360000-187363000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:187360000-187363000	Strong transcription	Colonic Mucosa	Colon
35	chr2:187360000-187363000	Strong transcription	HMEC	breast
36	chr2:187360000-187363000	Strong transcription	NHLF	lung
37	chr2:187360000-187363200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:187360000-187363200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:187360000-187363200	Strong transcription	NHDF-Ad	bronchial
40	chr2:187360000-187363800	Strong transcription	Placenta	Placenta
41	chr2:187360000-187364000	Strong transcription	HUVEC	blood vessel
42	chr2:187360000-187368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:187360000-187368600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:187360000-187368600	Strong transcription	Adipose Nuclei	Adipose
45	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:187360000-187378800	Strong transcription	Liver	Liver
48	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:187360200-187363000	Strong transcription	NHEK	skin

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