Variant report

Variant	rs34180575
Chromosome Location	chr1:221057173-221057174
allele	C/T
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	SUZ12	chr1:221056966-221063617	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr1:221057110-221059071	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
HLA-AS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2184658	0.99[EUR][1000 genomes]
rs3738182	0.99[EUR][1000 genomes]
rs3806325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221052000-221058000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:221053600-221057400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:221054800-221057400	Weak transcription	Gastric	stomach
4	chr1:221054800-221057600	Weak transcription	HSMMtube	muscle
5	chr1:221054800-221058400	Weak transcription	K562	blood
6	chr1:221054800-221061000	Weak transcription	HSMM	muscle
7	chr1:221055000-221058800	Weak transcription	Ovary	ovary
8	chr1:221055800-221057600	Weak transcription	Pancreas	Pancrea
9	chr1:221055800-221057800	Strong transcription	Spleen	Spleen
10	chr1:221055800-221058000	Weak transcription	Psoas Muscle	Psoas
11	chr1:221055800-221060400	Weak transcription	Hela-S3	cervix
12	chr1:221056000-221057200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:221056000-221057200	Weak transcription	Esophagus	oesophagus
14	chr1:221056000-221057200	Strong transcription	Left Ventricle	heart
15	chr1:221056000-221057200	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:221056000-221057200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:221056000-221057200	Weak transcription	HUVEC	blood vessel
18	chr1:221056000-221057400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:221056000-221057400	Strong transcription	Right Ventricle	heart
20	chr1:221056000-221057600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:221056000-221057600	Weak transcription	Aorta	Aorta
22	chr1:221056000-221057800	Genic enhancers	Liver	Liver
23	chr1:221056000-221058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:221056000-221058000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:221056000-221061000	Weak transcription	NHDF-Ad	bronchial
26	chr1:221056200-221057200	Weak transcription	Lung	lung
27	chr1:221056200-221057600	Genic enhancers	Adipose Nuclei	Adipose
28	chr1:221056200-221058000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
29	chr1:221056200-221058600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr1:221056200-221059200	Strong transcription	Osteobl	bone
31	chr1:221056200-221060400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:221056400-221057200	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:221056400-221057400	Weak transcription	Right Atrium	heart
34	chr1:221056400-221059000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:221056400-221060200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:221056600-221057200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:221056600-221057200	Bivalent Enhancer	Fetal Lung	lung
38	chr1:221056600-221057200	Weak transcription	Placenta	Placenta
39	chr1:221056600-221057800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr1:221056600-221058400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr1:221056600-221060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:221056600-221060400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:221056800-221057400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:221056800-221057400	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr1:221056800-221057400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr1:221056800-221057600	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr1:221056800-221057800	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:221056800-221057800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
49	chr1:221056800-221058600	Weak transcription	Primary B cells from cord blood	blood
50	chr1:221056800-221059200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon

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