Variant report

Variant	rs554693958
Chromosome Location	chr1:169539985-169539986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169539510..169541317-chr1:169543367..169545442,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv872536	chr1:169538466-169547610	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv872537	chr1:169538603-169547610	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
2	chr1:169524600-169541800	Weak transcription	Placenta	Placenta
3	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:169533400-169544600	Enhancers	Stomach Mucosa	stomach
5	chr1:169534000-169541400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:169535400-169540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:169535800-169541600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:169536400-169540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:169536400-169543600	Weak transcription	Left Ventricle	heart
10	chr1:169539000-169540000	Flanking Active TSS	HepG2	liver
11	chr1:169539000-169541600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:169539400-169540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:169539400-169540600	Enhancers	Liver	Liver
14	chr1:169539400-169542000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:169539600-169540000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:169539800-169540600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:169539800-169540800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:169539800-169540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:169539800-169540800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:169539800-169540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:169539800-169543800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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