Variant report

Variant	rs6671519
Chromosome Location	chr1:226136590-226136591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226110665..226113538-chr1:226134928..226137142,2	K562	blood:
2	chr1:226106739..226108269-chr1:226135055..226137378,2	K562	blood:
3	chr1:226127800..226129740-chr1:226134309..226137044,3	K562	blood:
4	chr1:226133155..226134935-chr1:226134938..226137202,2	K562	blood:

Variant related genes	Relation type
ENSG00000143768	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12058345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660662	0.96[AFR][1000 genomes]
rs6700642	0.86[MKK][hapmap];0.90[YRI][hapmap]

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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3385958	chr1:226117875-226149657	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226133000-226138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:226133200-226136600	Weak transcription	Fetal Thymus	thymus
6	chr1:226133200-226138600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:226134000-226138600	Weak transcription	Gastric	stomach
8	chr1:226134200-226138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:226134200-226138400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:226134400-226136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:226134400-226138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226134800-226137400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:226135800-226136600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:226136200-226136800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr1:226136200-226137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226136400-226136600	Bivalent Enhancer	HepG2	liver
17	chr1:226136400-226137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:226136400-226137200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:226136400-226137200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:226136400-226137200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr1:226136400-226137200	Enhancers	Fetal Muscle Leg	muscle
22	chr1:226136400-226137400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:226136400-226137400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links