Variant report

Variant	rs550309990
Chromosome Location	chr2:37319437-37319438
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37313406..37315182-chr2:37317081..37319850,2	K562	blood:
2	chr2:37315276..37317556-chr2:37318072..37320717,2	K562	blood:
3	chr2:37318207..37320295-chr2:37323063..37325034,2	K562	blood:

Variant related genes	Relation type
ENSG00000152133	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3351736	chr2:37318748-37320746	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:37312200-37320000	Weak transcription	Lung	lung
4	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
6	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37312400-37320000	Weak transcription	Colonic Mucosa	Colon
8	chr2:37312400-37321200	Weak transcription	Right Ventricle	heart
9	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:37312600-37319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:37312600-37320000	Weak transcription	Ovary	ovary
13	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:37312800-37321000	Weak transcription	Fetal Brain Male	brain
17	chr2:37312800-37321400	Weak transcription	Fetal Kidney	kidney
18	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
19	chr2:37313200-37320800	Weak transcription	Small Intestine	intestine
20	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
21	chr2:37313400-37320000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:37313400-37320200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:37313400-37328000	Weak transcription	Hela-S3	cervix
24	chr2:37313400-37330800	Weak transcription	NHEK	skin
25	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:37314000-37324400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:37314200-37329200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:37314400-37329400	Strong transcription	Fetal Thymus	thymus
30	chr2:37314400-37330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:37314800-37325200	Strong transcription	Osteobl	bone
34	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
36	chr2:37315200-37329000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:37315200-37329200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:37315400-37322200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:37315600-37322400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:37315600-37322600	Strong transcription	Left Ventricle	heart
41	chr2:37315600-37324600	Strong transcription	Brain Germinal Matrix	brain
42	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:37315800-37322200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:37315800-37322800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:37315800-37326000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:37315800-37328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:37315800-37341400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:37316000-37323600	Strong transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links