Variant report

Variant	rs6738751
Chromosome Location	chr2:30870135-30870136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
2	chr2:30869841..30871962-chr2:30899360..30901880,2	MCF-7	breast:
3	chr2:30866947..30869047-chr2:30869143..30871287,2	MCF-7	breast:
4	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58730941	0.85[AFR][1000 genomes]
rs59228351	0.94[AFR][1000 genomes]
rs6718986	0.92[AFR][1000 genomes]
rs6747522	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858990	0.85[AFR][1000 genomes]
rs72863005	0.81[AFR][1000 genomes]
rs72863019	0.87[AFR][1000 genomes]
rs72863027	0.83[AFR][1000 genomes]
rs72863050	0.92[AFR][1000 genomes]
rs72863089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863091	0.89[AFR][1000 genomes];1.00[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
8	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
9	chr2:30860400-30878200	Weak transcription	NHLF	lung
10	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
11	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:30863200-30871800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:30863600-30882200	Weak transcription	Ovary	ovary
14	chr2:30863800-30871800	Weak transcription	HSMMtube	muscle
15	chr2:30864000-30870800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:30864000-30872000	Weak transcription	Right Ventricle	heart
17	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30864200-30871000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:30864200-30871800	Weak transcription	Left Ventricle	heart
20	chr2:30864200-30872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:30864800-30876600	Weak transcription	Osteobl	bone
23	chr2:30865000-30871800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:30865000-30872200	Weak transcription	Aorta	Aorta
25	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:30865200-30872000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:30865200-30872200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:30865200-30878200	Weak transcription	A549	lung
31	chr2:30865600-30872000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:30866800-30872200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:30867000-30871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30869000-30870600	Weak transcription	Lung	lung
35	chr2:30869000-30871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:30869000-30872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:30869200-30871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links