Variant report

Variant	rs550691747
Chromosome Location	chr2:97480666-97480667
allele	-/AAAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr2:97480652-97483529	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr2:97480568-97483974	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
2	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
3	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
4	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
5	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:

No data

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000273265	TF binding region
ENSG00000163126	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000135976	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	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
12	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
13	esv3419974	chr2:97480425-97484723	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3522461	chr2:97480625-97484323	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
8	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:97466800-97481000	Weak transcription	HMEC	breast
10	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
12	chr2:97468000-97480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:97468000-97480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:97468400-97480800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:97473000-97481000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:97473200-97480800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:97473200-97480800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:97473600-97481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:97473800-97481000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:97474000-97480800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:97474200-97480800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:97474200-97480800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:97474200-97480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:97474200-97481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:97474400-97480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:97474600-97481000	Weak transcription	Ovary	ovary
28	chr2:97475200-97481000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:97475400-97480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:97475400-97481000	Weak transcription	Aorta	Aorta
31	chr2:97476200-97480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:97476200-97480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:97476200-97481000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:97476200-97481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:97476400-97480800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:97476400-97480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:97476400-97481000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:97476400-97481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:97476400-97481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:97476400-97481000	Weak transcription	Pancreas	Pancrea
41	chr2:97476400-97481000	Weak transcription	Stomach Mucosa	stomach
42	chr2:97476600-97480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97476600-97480800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:97476600-97480800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:97476600-97481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:97476600-97481000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:97476600-97481000	Weak transcription	Colonic Mucosa	Colon
48	chr2:97476600-97481200	Weak transcription	Esophagus	oesophagus
49	chr2:97476800-97480800	Weak transcription	Dnd41	blood
50	chr2:97476800-97481000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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