Variant report

Variant	rs543587149
Chromosome Location	chr1:169201656-169201657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1834321	chr1:169180302-169240975	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1845262	chr1:169180302-169240975	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv525520	chr1:169191860-169240084	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1845267	chr1:169191860-169240975	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1849515	chr1:169191860-169240975	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv946496	chr1:169199774-169202986	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
2	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
5	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
8	chr1:169182800-169205400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:169184400-169206200	Weak transcription	Lung	lung
10	chr1:169184800-169207400	Weak transcription	Ovary	ovary
11	chr1:169187600-169207800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:169187800-169211800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:169192200-169209600	Weak transcription	NHEK	skin
14	chr1:169192400-169210000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:169192600-169202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:169194000-169210000	Weak transcription	NHDF-Ad	bronchial
17	chr1:169194800-169207400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:169194800-169214000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:169195200-169207600	Weak transcription	Fetal Lung	lung
20	chr1:169195400-169207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:169197000-169204600	Weak transcription	HUVEC	blood vessel
22	chr1:169197200-169206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:169197200-169207600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:169197200-169210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:169197600-169210200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:169197800-169202200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:169198000-169209800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:169198600-169205200	Weak transcription	Fetal Kidney	kidney
29	chr1:169199200-169205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:169199200-169210200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:169199200-169211600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:169199600-169209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:169200800-169204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:169201000-169207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:169201000-169212800	Weak transcription	Psoas Muscle	Psoas
36	chr1:169201200-169204600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:169201200-169205000	Weak transcription	Colon Smooth Muscle	Colon

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