Variant report

Variant	rs538346504
Chromosome Location	chr2:48675534-48675535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
2	chr2:48666517..48672497-chr2:48674609..48679967,9	MCF-7	breast:
3	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:
4	chr2:48335435..48337113-chr2:48675018..48677889,2	K562	blood:
5	chr2:48010725..48012661-chr2:48674765..48677186,2	K562	blood:

Variant related genes	Relation type
ENSG00000272663	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2548827	chr2:48675521-48676816	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv1932167	chr2:48675527-48675952	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
4	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:48668800-48682400	Weak transcription	Lung	lung
7	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
8	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
11	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
13	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
15	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
18	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
19	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach
21	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
22	chr2:48670000-48679000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:48670400-48678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:48670400-48678800	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:48670400-48678800	Weak transcription	Ovary	ovary
26	chr2:48670600-48675600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:48670800-48681800	Weak transcription	Gastric	stomach
28	chr2:48670800-48681800	Weak transcription	Spleen	Spleen
29	chr2:48671400-48678200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48671600-48681800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:48671800-48675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:48671800-48677200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:48671800-48678600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:48672200-48676200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:48672800-48677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:48673000-48675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:48673000-48675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:48673000-48676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:48673000-48676400	Weak transcription	Fetal Intestine Small	intestine
41	chr2:48673000-48678600	Weak transcription	Placenta	Placenta
42	chr2:48673000-48679000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:48673000-48681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:48673000-48681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:48673000-48682000	Weak transcription	Esophagus	oesophagus
46	chr2:48673000-48686800	Weak transcription	Pancreas	Pancrea
47	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:48673200-48675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:48673200-48676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:48673200-48679200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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