Variant report

Variant	rs12441303
Chromosome Location	chr15:40604785-40604786
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40603175..40604974-chr15:40662055..40664478,2	K562	blood:
2	chr15:40604227..40604812-chr15:40659800..40660618,2	MCF-7	breast:
3	chr15:40596629..40600129-chr15:40604012..40607975,4	K562	blood:

Variant related genes	Relation type
ENSG00000140323	Chromatin interaction
ENSG00000259714	Chromatin interaction
ENSG00000137841	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2412511	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28405635	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457118	chr15:40565705-40606484	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv569227	chr15:40565705-40606484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv984054	chr15:40603452-40612578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12441303	CCDC32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40599400-40605600	Weak transcription	Right Atrium	heart
3	chr15:40600000-40605600	Weak transcription	HSMM	muscle
4	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:40601200-40605800	Weak transcription	HUVEC	blood vessel
6	chr15:40601200-40612800	Weak transcription	Right Ventricle	heart
7	chr15:40601400-40605600	Weak transcription	Lung	lung
8	chr15:40601400-40606400	Weak transcription	Esophagus	oesophagus
9	chr15:40601800-40605600	Weak transcription	Colonic Mucosa	Colon
10	chr15:40601800-40605600	Weak transcription	Thymus	Thymus
11	chr15:40602000-40612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40602000-40613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:40602200-40605600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:40602200-40612600	Weak transcription	Spleen	Spleen
16	chr15:40602400-40605200	Weak transcription	Fetal Heart	heart
17	chr15:40602400-40605600	Weak transcription	Primary T cells from cord blood	blood
18	chr15:40602400-40605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:40602400-40605600	Weak transcription	K562	blood
20	chr15:40602400-40605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:40602400-40605800	Weak transcription	Fetal Brain Male	brain
22	chr15:40602600-40605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:40602600-40605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:40602600-40605400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:40602600-40605400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:40602600-40605800	Weak transcription	Hela-S3	cervix
27	chr15:40602600-40606000	Weak transcription	Primary B cells from cord blood	blood
28	chr15:40602600-40606000	Weak transcription	Fetal Thymus	thymus
29	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:40602800-40605200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:40602800-40605400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:40602800-40605600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr15:40602800-40605600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:40602800-40605800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:40602800-40606000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:40603000-40605000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:40603000-40605600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:40604600-40604800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:40604600-40605000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr15:40604600-40607400	Enhancers	Pancreas	Pancrea
41	chr15:40604600-40607800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:40604600-40608000	Enhancers	Primary T cells fromperipheralblood	blood

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