Variant report

Variant	rs13376498
Chromosome Location	chr1:155695054-155695055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr1:155695012-155695307	K562	blood:	n/a	chr1:155695118-155695133 chr1:155695133-155695148 chr1:155695114-155695129
2	EGR1	chr1:155694994-155695216	K562	blood:	n/a	chr1:155695118-155695133 chr1:155695133-155695148 chr1:155695114-155695129

No.	Distal block	Cell Line	Cell type
1	chr1:155691136..155693112-chr1:155693289..155696050,2	K562	blood:
2	chr1:155657809..155659639-chr1:155693995..155696353,2	MCF-7	breast:
3	chr1:155694781..155696746-chr1:155714011..155716327,2	K562	blood:

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000203761	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000132676	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13375894	1.00[AMR][1000 genomes]
rs16836971	1.00[AMR][1000 genomes]
rs16837058	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34290183	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57468684	1.00[AMR][1000 genomes]
rs57883269	1.00[AMR][1000 genomes]
rs58774418	1.00[AMR][1000 genomes]
rs59287240	1.00[AMR][1000 genomes]
rs60777355	1.00[AMR][1000 genomes]
rs61375216	1.00[AMR][1000 genomes]
rs6663016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673172	1.00[MKK][hapmap]
rs6699393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548199	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550827	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv3065	chr1:155682768-155727524	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
3	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
4	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
7	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
8	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
9	chr1:155669200-155702200	Weak transcription	Gastric	stomach
10	chr1:155672800-155698800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155673800-155707800	Weak transcription	Aorta	Aorta
12	chr1:155676400-155695400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:155676400-155698600	Weak transcription	Stomach Mucosa	stomach
14	chr1:155676400-155706200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:155677400-155705200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:155679400-155710400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:155679800-155695200	Weak transcription	Fetal Brain Female	brain
18	chr1:155679800-155704200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:155681600-155696800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:155681600-155707800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:155682800-155697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155683000-155703200	Weak transcription	Spleen	Spleen
23	chr1:155683200-155695200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:155683200-155715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:155683400-155699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:155683400-155707800	Weak transcription	Fetal Heart	heart
27	chr1:155683800-155709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:155683800-155715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155684000-155700000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:155684000-155707800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:155685200-155704800	Strong transcription	Fetal Thymus	thymus
32	chr1:155685400-155698200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:155686200-155698800	Weak transcription	Fetal Kidney	kidney
34	chr1:155686600-155697600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:155686800-155697600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:155687200-155695200	Weak transcription	HSMM	muscle
37	chr1:155687200-155715000	Weak transcription	Esophagus	oesophagus
38	chr1:155687400-155697000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:155687600-155699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:155688400-155705000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:155688400-155711200	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:155688800-155710800	Strong transcription	Fetal Stomach	stomach
43	chr1:155688800-155711000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:155689200-155695200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:155689200-155695200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:155689200-155698600	Weak transcription	Brain Angular Gyrus	brain
47	chr1:155689200-155698600	Weak transcription	Brain Anterior Caudate	brain
48	chr1:155689200-155698600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:155689200-155706000	Weak transcription	Fetal Brain Male	brain
50	chr1:155689200-155709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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