Variant report

Variant	rs2077599
Chromosome Location	chr3:119102250-119102251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119097200..119099175-chr3:119101453..119104068,2	K562	blood:
2	chr3:119101955..119103666-chr3:119181677..119183349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10049044	0.81[ASN][1000 genomes]
rs13078855	0.90[CHD][hapmap];0.95[JPT][hapmap]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2077599	GOLGB1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119069400-119111400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:119072000-119109200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:119072200-119109600	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:119072200-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:119076400-119109200	Weak transcription	Colonic Mucosa	Colon
7	chr3:119076400-119109200	Weak transcription	Esophagus	oesophagus
8	chr3:119078800-119111400	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:119079400-119109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:119079800-119110000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
12	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:119081400-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
15	chr3:119085000-119109200	Weak transcription	Pancreas	Pancrea
16	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:119086400-119110000	Weak transcription	Fetal Thymus	thymus
18	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
19	chr3:119088200-119122400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:119088600-119109200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:119091800-119109200	Weak transcription	Gastric	stomach
22	chr3:119092800-119105600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:119093000-119103600	Strong transcription	Lung	lung
24	chr3:119093000-119103800	Strong transcription	Fetal Stomach	stomach
25	chr3:119093000-119116200	Weak transcription	Psoas Muscle	Psoas
26	chr3:119094400-119119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:119094600-119108800	Weak transcription	Fetal Intestine Large	intestine
28	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:119097200-119109800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:119097400-119103600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:119097600-119109400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:119097600-119120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:119097800-119103600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:119098400-119103400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:119098400-119111400	Weak transcription	Liver	Liver
37	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
38	chr3:119098600-119104200	Strong transcription	Fetal Lung	lung
39	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:119098800-119102400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:119098800-119103600	Strong transcription	Right Ventricle	heart
42	chr3:119098800-119103800	Strong transcription	Ovary	ovary
43	chr3:119098800-119105600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr3:119098800-119106200	Strong transcription	Left Ventricle	heart
45	chr3:119099000-119102800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:119099000-119102800	Strong transcription	Spleen	Spleen
47	chr3:119099000-119103000	Strong transcription	Primary T cells from cord blood	blood
48	chr3:119099000-119103600	Strong transcription	GM12878-XiMat	blood
49	chr3:119099000-119105400	Strong transcription	Osteobl	bone
50	chr3:119099000-119105600	Strong transcription	NH-A	brain

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