Variant report

Variant	rs563194271
Chromosome Location	chr2:97466669-97466670
allele	-/AG
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97269533..97270197-chr2:97466421..97467307,2	MCF-7	breast:
2	chr18:75695687..75698621-chr2:97466329..97469309,2	K562	blood:
3	chr2:97426560..97430311-chr2:97465753..97469757,6	MCF-7	breast:
4	chr2:97302394..97304035-chr2:97465229..97467150,2	K562	blood:
5	chr2:97465934..97468899-chr2:97470866..97472428,2	MCF-7	breast:
6	chr2:97426069..97427138-chr2:97466396..97467262,6	MCF-7	breast:
7	chr2:97301902..97304307-chr2:97465520..97468347,2	MCF-7	breast:
8	chr2:97422827..97423487-chr2:97466437..97467063,2	MCF-7	breast:
9	chr2:97425052..97427077-chr2:97465470..97467876,3	MCF-7	breast:
10	chr2:97460207..97462651-chr2:97465343..97467859,2	MCF-7	breast:
11	chr2:97214331..97216349-chr2:97465039..97467307,2	MCF-7	breast:
12	chr2:97215474..97216519-chr2:97466472..97467331,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000264334	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	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
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv3365153	chr2:97465325-97469223	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv3387574	chr2:97466025-97469223	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
2	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97454600-97467000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:97454600-97481000	Weak transcription	NHEK	skin
6	chr2:97454800-97467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
9	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
10	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
11	chr2:97458800-97467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:97458800-97467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:97462200-97467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:97462600-97469000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr2:97462800-97466800	Strong transcription	Ovary	ovary
18	chr2:97462800-97468800	Strong transcription	Esophagus	oesophagus
19	chr2:97462800-97468800	Strong transcription	Fetal Brain Female	brain
20	chr2:97463000-97468200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:97463200-97468800	Strong transcription	Brain Germinal Matrix	brain
23	chr2:97463800-97468400	Strong transcription	Dnd41	blood
24	chr2:97464600-97477600	Weak transcription	Osteobl	bone
25	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:97465000-97467400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:97465000-97467400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:97465200-97467400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:97465200-97467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:97465200-97474200	Weak transcription	Aorta	Aorta
31	chr2:97465200-97477200	Weak transcription	NHDF-Ad	bronchial
32	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:97465400-97467000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:97465400-97467000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
36	chr2:97465600-97467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:97465600-97467400	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:97465600-97467400	Weak transcription	Adipose Nuclei	Adipose
39	chr2:97465800-97467000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:97465800-97467000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:97465800-97467200	Weak transcription	Primary T cells from cord blood	blood
42	chr2:97465800-97467200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:97465800-97467400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:97465800-97467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:97466000-97466800	Genic enhancers	Gastric	stomach
46	chr2:97466000-97467000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:97466200-97466800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr2:97466200-97467000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:97466200-97467000	Enhancers	Brain Hippocampus Middle	brain

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