Variant report

Variant	rs30633
Chromosome Location	chr5:14298470-14298471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14294031..14295826-chr5:14296688..14299284,2	K562	blood:
2	chr5:14297092..14299809-chr5:14302989..14304716,2	K562	blood:
3	chr5:14291154..14293817-chr5:14297632..14299318,2	K562	blood:
4	chr5:14291154..14293817-chr5:14296809..14299318,3	K562	blood:
5	chr5:14298239..14300379-chr5:14303550..14306461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs154153	0.81[ASN][1000 genomes]
rs154154	0.81[ASN][1000 genomes]
rs154155	0.81[ASN][1000 genomes]
rs164859	0.82[CHB][hapmap]
rs164860	0.82[CHB][hapmap]
rs164862	0.82[CHB][hapmap]
rs164863	0.82[CHB][hapmap]
rs165083	0.82[ASN][1000 genomes]
rs165094	0.82[CHB][hapmap]
rs187432	0.86[ASN][1000 genomes]
rs2440982	0.82[CHB][hapmap]
rs247141	0.81[JPT][hapmap]
rs247145	0.85[ASN][1000 genomes]
rs30621	0.80[CEU][hapmap];0.86[CHB][hapmap]
rs30622	0.86[JPT][hapmap]
rs30625	0.99[ASN][1000 genomes]
rs30626	0.84[ASN][1000 genomes]
rs30629	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs30630	0.84[ASN][1000 genomes]
rs30631	0.80[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs30632	0.95[ASN][1000 genomes]
rs30634	0.82[ASN][1000 genomes]
rs30635	0.91[ASN][1000 genomes]
rs354303	0.82[CHB][hapmap]
rs356027	0.84[ASN][1000 genomes]
rs356028	0.82[ASN][1000 genomes]
rs356029	0.82[ASN][1000 genomes]
rs39857	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs40971	0.85[ASN][1000 genomes]
rs42203	0.84[ASN][1000 genomes]
rs42204	0.82[ASN][1000 genomes]
rs42253	0.81[ASN][1000 genomes]
rs42405	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:14286800-14301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:14286800-14301800	Strong transcription	Liver	Liver
14	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
15	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:14287800-14298600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:14288600-14301600	Strong transcription	GM12878-XiMat	blood
19	chr5:14288800-14300600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:14289400-14302800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:14290000-14302800	Strong transcription	Fetal Intestine Large	intestine
22	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
23	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
24	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
25	chr5:14292400-14302000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:14293000-14300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:14293200-14299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:14293600-14303600	Strong transcription	HSMM	muscle
29	chr5:14293800-14299000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:14293800-14299200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:14293800-14303000	Strong transcription	HSMMtube	muscle
32	chr5:14293800-14304600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:14294600-14308200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:14295000-14299200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:14295000-14299400	Weak transcription	Hela-S3	cervix
36	chr5:14295200-14298800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:14295200-14302000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:14295400-14299600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:14295600-14298800	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr5:14295600-14299200	Genic enhancers	NHLF	lung
41	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:14295800-14300400	Strong transcription	HepG2	liver
43	chr5:14296200-14298800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:14296200-14299200	Genic enhancers	NH-A	brain
45	chr5:14296200-14299200	Genic enhancers	Osteobl	bone
46	chr5:14296200-14299600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:14296400-14298600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:14296400-14299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:14296400-14302200	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:14296600-14299200	Genic enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links