Variant report

Variant	rs2477
Chromosome Location	chr12:9265796-9265797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9248855..9251571-chr12:9264323..9266629,2	MCF-7	breast:
2	chr12:9265762..9267378-chr12:9267657..9270590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175899	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10771204	1.00[GIH][hapmap]
rs226397	0.83[EUR][1000 genomes]
rs4882970	1.00[GIH][hapmap]
rs4883197	1.00[GIH][hapmap]
rs4883199	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	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	18 gene(s)	inside rSNPs	diseases
9	nsv975622	chr12:9264452-9266844	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2477	CSF2RB	trans	lymphoblastoid	seeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
6	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
7	chr12:9245000-9266000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:9246600-9266000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:9246600-9268600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:9249400-9268800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:9249600-9267600	Weak transcription	HSMMtube	muscle
12	chr12:9250600-9268200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:9250600-9268600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:9251000-9266000	Weak transcription	NHLF	lung
15	chr12:9251400-9268200	Weak transcription	Pancreas	Pancrea
16	chr12:9252200-9268800	Weak transcription	Primary T cells from cord blood	blood
17	chr12:9252600-9268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:9252600-9268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:9254200-9265800	Weak transcription	Gastric	stomach
20	chr12:9254200-9267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:9254800-9265800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:9255200-9266000	Weak transcription	Fetal Stomach	stomach
23	chr12:9257000-9265800	Weak transcription	Brain Substantia Nigra	brain
24	chr12:9258400-9267600	Weak transcription	Placenta	Placenta
25	chr12:9260200-9267600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:9261400-9265800	Weak transcription	Ovary	ovary
27	chr12:9261400-9266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:9261800-9266600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:9262000-9265800	Weak transcription	Fetal Heart	heart
30	chr12:9262800-9266000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:9264000-9265800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:9264600-9266200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:9264600-9266800	Transcr. at gene 5' and 3'	Fetal Lung	lung
35	chr12:9264600-9269800	Active TSS	Brain Hippocampus Middle	brain
36	chr12:9264800-9266000	Strong transcription	Aorta	Aorta
37	chr12:9264800-9266000	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:9264800-9266200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
39	chr12:9264800-9266200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr12:9264800-9266400	Transcr. at gene 5' and 3'	HepG2	liver
41	chr12:9264800-9268600	Weak transcription	Primary B cells from cord blood	blood
42	chr12:9264800-9269000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:9264800-9270200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:9265000-9265800	Genic enhancers	Left Ventricle	heart
45	chr12:9265000-9266000	Genic enhancers	Spleen	Spleen
46	chr12:9265000-9266800	Active TSS	Brain Angular Gyrus	brain
47	chr12:9265000-9267000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:9265000-9268200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:9265000-9269000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:9265000-9269200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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