Variant report

Variant	rs62327349
Chromosome Location	chr4:152627230-152627231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152625421..152627707-chr4:152631872..152634146,2	K562	blood:
2	chr4:152625613..152627805-chr4:152644194..152646023,2	MCF-7	breast:
3	chr16:4938802..4939631-chr4:152626739..152627404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10001603	0.80[EUR][1000 genomes]
rs10007653	0.80[EUR][1000 genomes]
rs10022023	0.82[EUR][1000 genomes]
rs11723395	0.81[EUR][1000 genomes]
rs11723438	0.81[EUR][1000 genomes]
rs11726892	0.81[EUR][1000 genomes]
rs11736116	0.81[EUR][1000 genomes]
rs11931934	0.81[EUR][1000 genomes]
rs11932059	0.81[EUR][1000 genomes]
rs12645029	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12649199	0.84[EUR][1000 genomes]
rs12650655	0.81[EUR][1000 genomes]
rs12651635	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17275598	0.82[EUR][1000 genomes]
rs17360371	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17360385	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1822346	0.81[EUR][1000 genomes]
rs1822347	0.81[EUR][1000 genomes]
rs2407069	0.81[EUR][1000 genomes]
rs4696101	0.80[EUR][1000 genomes]
rs4696102	0.81[EUR][1000 genomes]
rs4696272	0.81[EUR][1000 genomes]
rs4696275	0.81[EUR][1000 genomes]
rs4696276	0.81[EUR][1000 genomes]
rs4696278	0.81[EUR][1000 genomes]
rs4696279	0.82[EUR][1000 genomes]
rs4696280	0.81[EUR][1000 genomes]
rs4696281	0.80[EUR][1000 genomes]
rs4696288	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696289	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696290	0.83[EUR][1000 genomes]
rs55808836	0.80[EUR][1000 genomes]
rs62327269	0.81[EUR][1000 genomes]
rs62327270	0.81[EUR][1000 genomes]
rs62327271	0.81[EUR][1000 genomes]
rs62327274	0.80[AFR][1000 genomes]
rs62327275	0.80[AFR][1000 genomes]
rs62327277	0.81[EUR][1000 genomes]
rs62327278	0.81[EUR][1000 genomes]
rs62327350	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6811676	0.81[EUR][1000 genomes]
rs6833814	0.80[AFR][1000 genomes]
rs718800	0.81[EUR][1000 genomes]
rs718801	0.81[EUR][1000 genomes]
rs7678080	0.81[EUR][1000 genomes]
rs7685697	0.81[EUR][1000 genomes]
rs7689266	0.82[EUR][1000 genomes]
rs7692700	0.81[EUR][1000 genomes]
rs875667	0.81[EUR][1000 genomes]
rs875668	0.81[EUR][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	nsv4551	chr4:152582617-152627367	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152585600-152628600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:152592600-152636400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:152596400-152627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:152596400-152628600	Weak transcription	Colonic Mucosa	Colon
7	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:152598400-152648200	Weak transcription	HMEC	breast
9	chr4:152599000-152637200	Weak transcription	GM12878-XiMat	blood
10	chr4:152605400-152628600	Weak transcription	Aorta	Aorta
11	chr4:152609200-152640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:152609600-152628800	Weak transcription	HepG2	liver
13	chr4:152609600-152640400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:152611800-152640000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:152612000-152651000	Weak transcription	K562	blood
17	chr4:152612200-152628800	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:152612200-152632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:152612400-152631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:152612400-152642600	Weak transcription	NHLF	lung
21	chr4:152612600-152630000	Weak transcription	NH-A	brain
22	chr4:152612800-152628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:152613000-152629000	Weak transcription	Osteobl	bone
24	chr4:152614400-152640200	Weak transcription	Gastric	stomach
25	chr4:152614600-152651200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:152615000-152651000	Weak transcription	HSMM	muscle
27	chr4:152616600-152629200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
29	chr4:152617200-152629800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:152617600-152629400	Weak transcription	Fetal Heart	heart
31	chr4:152617600-152631400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:152618600-152629800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:152618600-152630400	Weak transcription	Fetal Brain Female	brain
34	chr4:152619000-152627400	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:152619000-152638400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:152620400-152632400	Weak transcription	Psoas Muscle	Psoas
37	chr4:152620600-152629200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:152620600-152629400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:152620600-152631000	Strong transcription	Liver	Liver
40	chr4:152620600-152641200	Strong transcription	Primary T cells from cord blood	blood
41	chr4:152620800-152627800	Strong transcription	Fetal Intestine Large	intestine
42	chr4:152621200-152629800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:152621400-152651600	Weak transcription	Small Intestine	intestine
44	chr4:152621600-152628600	Weak transcription	Pancreas	Pancrea
45	chr4:152622000-152644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:152622200-152627400	Strong transcription	Right Ventricle	heart
47	chr4:152622400-152640000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:152622600-152641000	Weak transcription	HSMMtube	muscle
49	chr4:152622800-152628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:152622800-152638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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