Variant report

Variant	rs7537595
Chromosome Location	chr1:154528805-154528806
allele	C/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	MXI1	chr1:154528662-154532574	SK-N-SH	brain:	n/a	chr1:154531305-154531314
2	MXI1	chr1:154528613-154530379	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:154528565-154529292	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154528419..154530769-chr1:154535384..154537634,2	MCF-7	breast:
2	chr1:154460459..154462764-chr1:154527677..154529936,2	K562	blood:
3	chr1:154500418..154502884-chr1:154526293..154528985,2	K562	blood:
4	chr1:154458190..154460389-chr1:154527899..154530840,2	K562	blood:
5	chr1:154528624..154530149-chr1:155054658..155056691,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q1	TF binding region
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11265605	1.00[EUR][1000 genomes]
rs11265630	1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs3828078	1.00[CEU][hapmap]
rs4078519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240873	1.00[EUR][1000 genomes]
rs4393148	1.00[EUR][1000 genomes]
rs4520411	1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	1.00[EUR][1000 genomes]
rs4845646	1.00[EUR][1000 genomes]
rs6427694	1.00[EUR][1000 genomes]
rs6678164	1.00[EUR][1000 genomes]
rs6683078	1.00[EUR][1000 genomes]
rs6684225	1.00[EUR][1000 genomes]
rs6685108	1.00[EUR][1000 genomes]
rs7515974	1.00[EUR][1000 genomes]
rs7530737	1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9659545	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154521400-154529000	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr1:154521600-154529000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:154521800-154529000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154523800-154529000	Strong transcription	Colonic Mucosa	Colon
5	chr1:154526600-154529000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:154527200-154529000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:154528000-154529000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:154528200-154529000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:154528200-154529000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:154528200-154529000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:154528200-154529000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:154528200-154529000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr1:154528200-154529200	Genic enhancers	Placenta	Placenta
14	chr1:154528200-154529200	Genic enhancers	Spleen	Spleen
15	chr1:154528200-154529600	Genic enhancers	Lung	lung
16	chr1:154528400-154529000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:154528400-154529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:154528400-154529000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:154528400-154529000	Enhancers	Pancreas	Pancrea
20	chr1:154528400-154529000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:154528400-154529000	Enhancers	Right Atrium	heart
22	chr1:154528400-154529000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:154528400-154529000	Weak transcription	Small Intestine	intestine
24	chr1:154528400-154529200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:154528400-154529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:154528400-154529200	Genic enhancers	Fetal Muscle Leg	muscle
27	chr1:154528400-154529600	Weak transcription	Esophagus	oesophagus
28	chr1:154528400-154530600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr1:154528600-154529000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:154528600-154529000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:154528600-154529000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:154528600-154529000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:154528600-154529000	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:154528600-154529000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:154528600-154529000	Genic enhancers	Fetal Stomach	stomach
36	chr1:154528600-154529000	Enhancers	Left Ventricle	heart
37	chr1:154528600-154529000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:154528600-154529000	Enhancers	Right Ventricle	heart
39	chr1:154528600-154529000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:154528600-154529000	Genic enhancers	A549	lung
41	chr1:154528600-154529000	Transcr. at gene 5' and 3'	Osteobl	bone
42	chr1:154528600-154529200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:154528600-154529200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:154528600-154529200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:154528600-154529400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:154528600-154529400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
47	chr1:154528600-154529400	Flanking Active TSS	GM12878-XiMat	blood
48	chr1:154528600-154529600	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr1:154528600-154529600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:154528600-154529600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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