Variant report

Variant	rs558137186
Chromosome Location	chr1:180372782-180372783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1009742	chr1:180342203-180385459	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1014937	chr1:180360900-180399555	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1813869	chr1:180372766-180377339	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180341200-180401400	Weak transcription	Osteobl	bone
2	chr1:180348200-180382600	Weak transcription	Pancreas	Pancrea
3	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
4	chr1:180351600-180378400	Weak transcription	HSMM	muscle
5	chr1:180352400-180381400	Weak transcription	Hela-S3	cervix
6	chr1:180352800-180399400	Weak transcription	Fetal Thymus	thymus
7	chr1:180354600-180374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:180354800-180386600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:180355200-180402600	Weak transcription	HMEC	breast
10	chr1:180355400-180378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:180355600-180378400	Weak transcription	Placenta	Placenta
12	chr1:180355600-180390800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:180356600-180381400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:180356600-180394000	Weak transcription	NHDF-Ad	bronchial
15	chr1:180356800-180373000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:180356800-180378600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:180356800-180378800	Weak transcription	Left Ventricle	heart
18	chr1:180356800-180380800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:180356800-180406200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:180356800-180407000	Weak transcription	Aorta	Aorta
21	chr1:180357000-180378400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:180358200-180374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:180360200-180378000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:180360400-180394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:180361000-180378600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:180361000-180381000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:180361000-180383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:180361400-180407600	Weak transcription	HepG2	liver
29	chr1:180361600-180382800	Weak transcription	Liver	Liver
30	chr1:180362600-180379200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:180363400-180385200	Weak transcription	Fetal Kidney	kidney
32	chr1:180363800-180378400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:180364000-180394200	Weak transcription	HSMMtube	muscle
34	chr1:180364400-180381600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:180364400-180383400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:180364400-180384200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:180364400-180392800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:180364400-180401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:180364600-180380800	Weak transcription	Fetal Stomach	stomach
40	chr1:180364600-180401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:180364800-180376200	Weak transcription	Fetal Brain Female	brain
42	chr1:180364800-180379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:180364800-180383800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:180364800-180390200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:180365000-180391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:180365000-180401000	Weak transcription	Ovary	ovary
47	chr1:180365200-180381000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:180365200-180390200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:180365200-180420600	Weak transcription	A549	lung
50	chr1:180365400-180378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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