Variant report

Variant	rs3738720
Chromosome Location	chr1:226796537-226796538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226789700..226792954-chr1:226793236..226797673,6	K562	blood:
2	chr1:226735114..226736071-chr1:226796196..226797114,2	MCF-7	breast:
3	chr1:226612258..226612876-chr1:226796174..226796960,2	K562	blood:
4	chr1:226796156..226797166-chr1:226813911..226814774,3	K562	blood:
5	chr1:226612138..226612852-chr1:226796151..226796974,3	MCF-7	breast:
6	chr1:226735519..226736245-chr1:226796429..226797178,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10799362	0.97[ASN][1000 genomes]
rs10916017	0.97[ASN][1000 genomes]
rs3738719	0.99[ASN][1000 genomes]
rs6663978	0.97[ASN][1000 genomes]
rs6664080	0.97[ASN][1000 genomes]
rs6664299	0.97[ASN][1000 genomes]
rs6667555	0.97[ASN][1000 genomes]
rs6697883	0.97[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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3437833	chr1:226780025-226810577	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226793000-226797600	Weak transcription	Right Atrium	heart
2	chr1:226793000-226797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:226793000-226797800	Weak transcription	Right Ventricle	heart
4	chr1:226793000-226798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:226793200-226796800	Weak transcription	NHDF-Ad	bronchial
6	chr1:226793800-226797000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:226794800-226797600	Weak transcription	Fetal Heart	heart
8	chr1:226795200-226796800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:226795400-226796600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:226795600-226796600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:226795800-226796600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:226795800-226797000	Enhancers	Brain Germinal Matrix	brain
13	chr1:226795800-226797600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:226796000-226797800	Enhancers	Fetal Brain Male	brain
15	chr1:226796200-226796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:226796200-226796600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:226796200-226796600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:226796200-226796800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:226796200-226797000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:226796200-226798600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:226796400-226796600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:226796400-226796600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:226796400-226796600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr1:226796400-226796600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:226796400-226796600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr1:226796400-226796600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr1:226796400-226796600	Enhancers	Fetal Intestine Small	intestine
28	chr1:226796400-226796600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr1:226796400-226796600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:226796400-226796600	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr1:226796400-226797800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:226796400-226798000	Enhancers	Adipose Nuclei	Adipose
33	chr1:226796400-226798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:226796400-226798600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links