Variant report

Variant	rs558679662
Chromosome Location	chr2:172310653-172310654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3413589	chr2:172310360-172310805	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
3	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:172297000-172313000	Weak transcription	A549	lung
15	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
18	chr2:172298400-172311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:172298400-172314200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
22	chr2:172298400-172326200	Weak transcription	NHEK	skin
23	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
24	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:172298600-172341400	Weak transcription	NHLF	lung
26	chr2:172299400-172325400	Weak transcription	Gastric	stomach
27	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:172303600-172316200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:172303600-172317000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:172303800-172311600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:172303800-172312200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:172303800-172317400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:172304000-172312000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:172304000-172312200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:172304000-172312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:172304000-172312600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:172304200-172310800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:172304200-172311000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:172304200-172312400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:172304200-172312600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:172304200-172314200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:172304200-172316600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:172304200-172316800	Strong transcription	Liver	Liver
44	chr2:172304800-172311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:172304800-172311600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:172304800-172314400	Weak transcription	Spleen	Spleen
47	chr2:172304800-172315400	Weak transcription	Fetal Intestine Small	intestine
48	chr2:172304800-172315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:172304800-172315600	Weak transcription	Esophagus	oesophagus
50	chr2:172304800-172325200	Weak transcription	Brain Angular Gyrus	brain

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