Variant report

Variant	rs2794731
Chromosome Location	chr1:211868723-211868724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211867435..211872084-chr1:212001341..212005541,5	K562	blood:
2	chr1:211866655..211870305-chr1:212779614..212783585,3	K562	blood:

Variant related genes	Relation type
ENSG00000123684	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000229258	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11119794	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11578614	1.00[CHB][hapmap]
rs12074002	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12561861	1.00[CHB][hapmap]
rs1373292	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17017716	1.00[CHB][hapmap]
rs1822569	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2184844	1.00[CHB][hapmap]
rs41275368	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4511185	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57370308	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60293324	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6659316	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6661565	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs701926	1.00[CHB][hapmap]
rs7511687	1.00[CHB][hapmap]
rs7516189	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7526891	1.00[CHB][hapmap]
rs7527002	1.00[CHB][hapmap]
rs7539988	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7554588	1.00[CHB][hapmap]

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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2794731	HHAT	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211859600-211872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:211866600-211871800	Weak transcription	Right Atrium	heart
3	chr1:211867600-211871800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:211867800-211872000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:211867800-211873000	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:211868000-211869200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211868000-211869200	Enhancers	K562	blood
8	chr1:211868000-211869400	Enhancers	Fetal Thymus	thymus
9	chr1:211868000-211869400	Enhancers	Spleen	Spleen
10	chr1:211868000-211869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:211868000-211870000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:211868000-211872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:211868200-211868800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:211868200-211869000	Enhancers	Primary T cells from cord blood	blood
15	chr1:211868200-211869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:211868200-211869200	Flanking Active TSS	GM12878-XiMat	blood
17	chr1:211868200-211870200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:211868200-211871600	Enhancers	Primary B cells from cord blood	blood
19	chr1:211868400-211868800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:211868400-211868800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:211868400-211868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:211868400-211869000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:211868400-211869200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:211868400-211869200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:211868400-211869200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:211868400-211869200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:211868400-211869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:211868400-211872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:211868600-211868800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:211868600-211868800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:211868600-211868800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:211868600-211868800	Flanking Active TSS	HepG2	liver
33	chr1:211868600-211869200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:211868600-211869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:211868600-211869200	Enhancers	Fetal Heart	heart
36	chr1:211868600-211869200	Enhancers	Thymus	Thymus

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