Variant report

Variant	rs4233821
Chromosome Location	chr2:169632725-169632726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169630763..169636990-chr2:169638094..169645299,10	K562	blood:
2	chr2:169629519..169633434-chr2:169651628..169656188,4	K562	blood:
3	chr2:169631455..169632974-chr2:169701424..169703955,2	K562	blood:
4	chr2:169622048..169624666-chr2:169632656..169634335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163072	Chromatin interaction
ENSG00000227617	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12692886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017628	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1402840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16855872	1.00[CHB][hapmap]
rs2390731	0.83[ASN][1000 genomes]
rs3845726	1.00[CHB][hapmap]
rs3845727	1.00[CHB][hapmap]
rs3856426	1.00[CHB][hapmap]
rs3914920	1.00[CHB][hapmap]
rs4668101	0.83[ASN][1000 genomes]
rs4668103	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433088	0.83[ASN][1000 genomes]
rs6433092	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558965	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7585751	0.83[ASN][1000 genomes]
rs7589456	0.83[ASN][1000 genomes]
rs8304	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4233821	C2orf77	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169597200-169635800	Weak transcription	Ovary	ovary
2	chr2:169606600-169632800	Weak transcription	Pancreas	Pancrea
3	chr2:169608200-169633800	Weak transcription	Psoas Muscle	Psoas
4	chr2:169608400-169633600	Weak transcription	Dnd41	blood
5	chr2:169609200-169636400	Weak transcription	Lung	lung
6	chr2:169609400-169633000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:169609600-169634200	Weak transcription	Fetal Brain Male	brain
8	chr2:169610800-169637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:169611200-169636600	Weak transcription	HepG2	liver
10	chr2:169622200-169641400	Weak transcription	Small Intestine	intestine
11	chr2:169623400-169632800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:169624400-169632800	Weak transcription	NHEK	skin
13	chr2:169625400-169633000	Strong transcription	Primary T cells from cord blood	blood
14	chr2:169625600-169635400	Weak transcription	Fetal Stomach	stomach
15	chr2:169626800-169633000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:169626800-169633800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:169626800-169641800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:169627800-169636600	Weak transcription	Fetal Kidney	kidney
19	chr2:169628000-169637000	Weak transcription	Hela-S3	cervix
20	chr2:169629400-169633600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:169630000-169632800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:169630800-169633600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:169631000-169633600	Weak transcription	Fetal Thymus	thymus
24	chr2:169631000-169633600	Weak transcription	Left Ventricle	heart
25	chr2:169631000-169634200	Weak transcription	Fetal Brain Female	brain
26	chr2:169631000-169636400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:169631000-169637600	Weak transcription	Brain Germinal Matrix	brain
28	chr2:169631200-169637600	Weak transcription	Fetal Heart	heart
29	chr2:169631400-169632800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:169631400-169632800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:169631400-169633000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:169631600-169632800	ZNF genes & repeats	K562	blood
33	chr2:169632000-169633000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr2:169632400-169632800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr2:169632400-169632800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr2:169632400-169633000	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr2:169632400-169634200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:169632600-169632800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr2:169632600-169637000	Weak transcription	Duodenum Mucosa	Duodenum

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