Variant report

Variant	rs544651139
Chromosome Location	chr2:97591681-97591682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97591274..97594233-chr2:97611259..97613898,3	MCF-7	breast:
2	chr2:97591538..97593644-chr2:97602591..97604574,2	MCF-7	breast:
3	chr2:97587758..97596829-chr2:97597446..97601811,11	K562	blood:
4	chr2:97583057..97585198-chr2:97588467..97591915,3	K562	blood:
5	chr2:97589310..97591841-chr2:97591978..97596020,4	MCF-7	breast:
6	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
7	chr2:97528035..97529559-chr2:97591357..97594257,2	K562	blood:
8	chr2:97591472..97593317-chr2:97596171..97598868,2	MCF-7	breast:
9	chr2:97590809..97593385-chr2:97597939..97599860,2	MCF-7	breast:
10	chr2:97590638..97593151-chr2:97603890..97606956,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
2	chr2:97587000-97592200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:97589400-97593800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97589600-97593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97589800-97595200	Enhancers	Fetal Brain Male	brain
6	chr2:97590000-97592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:97590400-97592800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:97590400-97593200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:97590600-97592200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:97590600-97592200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:97590600-97593600	Enhancers	Brain Angular Gyrus	brain
12	chr2:97590800-97592800	Enhancers	Colon Smooth Muscle	Colon
13	chr2:97590800-97592800	Weak transcription	Spleen	Spleen
14	chr2:97590800-97593200	Weak transcription	Fetal Lung	lung
15	chr2:97591000-97592400	Enhancers	Brain Anterior Caudate	brain
16	chr2:97591000-97592400	Weak transcription	Fetal Brain Female	brain
17	chr2:97591000-97592800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:97591000-97593200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:97591000-97593200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:97591200-97591800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:97591200-97592000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:97591200-97592400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:97591200-97592800	Weak transcription	Fetal Heart	heart
24	chr2:97591200-97593200	Weak transcription	Fetal Thymus	thymus
25	chr2:97591400-97592400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:97591600-97591800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:97591600-97592000	Weak transcription	K562	blood
28	chr2:97591600-97592800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:97591600-97593200	Enhancers	Brain Substantia Nigra	brain

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