Variant report

Variant	rs56222785
Chromosome Location	chr2:187508997-187508998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187499878..187502863-chr2:187506604..187509520,2	K562	blood:
2	chr2:187498707..187501251-chr2:187505891..187509505,3	MCF-7	breast:
3	chr2:187454687..187456807-chr2:187506991..187509085,2	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10931253	0.88[ASN][1000 genomes]
rs12475476	0.93[EUR][1000 genomes]
rs12618322	0.82[ASN][1000 genomes]
rs12620821	0.88[ASN][1000 genomes]
rs13028008	0.80[ASN][1000 genomes]
rs1448427	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17406229	0.88[ASN][1000 genomes]
rs2121975	0.88[ASN][1000 genomes]
rs2276562	0.91[EUR][1000 genomes]
rs34840521	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35348196	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35540241	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768785	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816375	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4667107	0.91[EUR][1000 genomes]
rs4667108	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs55781198	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55961288	0.83[ASN][1000 genomes]
rs62173044	0.87[EUR][1000 genomes]
rs62196185	0.85[EUR][1000 genomes]
rs6705757	0.83[ASN][1000 genomes]
rs718259	0.81[EUR][1000 genomes]
rs7585442	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7585471	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9789704	0.80[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
3	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
6	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:187462800-187515400	Weak transcription	Gastric	stomach
9	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:187465800-187529200	Weak transcription	Dnd41	blood
11	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
12	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
15	chr2:187476000-187519800	Weak transcription	K562	blood
16	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
17	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
24	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:187486600-187531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:187487800-187510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:187489400-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:187493800-187529200	Weak transcription	Brain Substantia Nigra	brain
29	chr2:187494200-187529200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:187494200-187535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:187494800-187531800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:187495000-187534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:187500000-187509800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:187500000-187510000	Strong transcription	NH-A	brain
35	chr2:187500000-187510200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:187500000-187513000	Strong transcription	HUVEC	blood vessel
37	chr2:187500000-187519800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:187500200-187510000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:187500200-187513400	Strong transcription	Fetal Intestine Large	intestine
40	chr2:187500600-187510000	Strong transcription	HSMM	muscle
41	chr2:187500600-187515800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:187501800-187509800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:187501800-187510400	Strong transcription	Placenta	Placenta
45	chr2:187502400-187509200	Strong transcription	Adipose Nuclei	Adipose
46	chr2:187502400-187510200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:187502400-187512400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:187502800-187516400	Weak transcription	HMEC	breast
49	chr2:187502800-187533000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:187503200-187509200	Strong transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links