Variant report

Variant	rs74939743
Chromosome Location	chr1:220503431-220503432
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	chr1:220503407..220505122-chr1:220514506..220516163,2	K562	blood:
2	chr1:220501802..220503799-chr1:220507368..220509036,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3355469	chr1:220501029-220505527	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv549225	chr1:220501889-220504423	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3428704	chr1:220502279-220504577	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv826698	chr1:220502732-220503736	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3321202	chr1:220502817-220503692	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3517480	chr1:220502823-220503692	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3517482	chr1:220502837-220503644	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3387522	chr1:220502837-220503666	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3321200	chr1:220502865-220503658	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3321203	chr1:220502872-220503668	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3321201	chr1:220502879-220503610	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3517481	chr1:220502889-220503631	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv826720	chr1:220502899-220503489	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv826731	chr1:220502899-220503736	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3321199	chr1:220502929-220503588	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3321204	chr1:220502944-220503585	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3517483	chr1:220502944-220503585	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv18796	chr1:220503012-220503523	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1842996	chr1:220503037-220504423	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1796406	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1803403	chr1:220503037-220506871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1847555	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1848942	chr1:220503037-220506871	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1849545	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220500800-220509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:220501400-220508800	Weak transcription	Esophagus	oesophagus
5	chr1:220502600-220504200	Enhancers	Brain Germinal Matrix	brain
6	chr1:220502800-220503600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:220502800-220504200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:220502800-220505000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:220503000-220505000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:220503200-220510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:220503400-220503800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:220503400-220509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links