Variant report

Variant	rs12508824
Chromosome Location	chr4:130034240-130034241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130030784..130034303-chr4:130034493..130036505,5	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11732348	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11733095	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13114398	0.85[CHB][hapmap];0.95[ASN][1000 genomes]
rs13136220	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs13137378	0.95[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13151322	0.81[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs17014149	1.00[YRI][hapmap]
rs17014190	1.00[YRI][hapmap]
rs17351999	0.82[AMR][1000 genomes]
rs1867951	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271570	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4487352	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968252	1.00[YRI][hapmap]

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12508824	C4orf33	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130017600-130040400	Weak transcription	Lung	lung
2	chr4:130018000-130038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:130025800-130035000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:130028800-130036600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:130029200-130040000	Weak transcription	Esophagus	oesophagus
6	chr4:130029400-130035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:130029400-130041200	Weak transcription	Spleen	Spleen
8	chr4:130029600-130038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:130030800-130035600	Weak transcription	Gastric	stomach
10	chr4:130031400-130036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:130031800-130034800	Weak transcription	K562	blood
12	chr4:130031800-130035800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:130031800-130035800	Weak transcription	Left Ventricle	heart
14	chr4:130031800-130036800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:130031800-130037400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:130031800-130037400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:130031800-130039800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:130031800-130040000	Weak transcription	Dnd41	blood
19	chr4:130032000-130034600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:130032000-130034800	Weak transcription	Primary B cells from cord blood	blood
21	chr4:130032000-130035400	Weak transcription	Ovary	ovary
22	chr4:130032000-130037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:130032200-130034400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:130032200-130034800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:130032200-130034800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:130032200-130035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:130032400-130034600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:130032400-130034600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:130032400-130034600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:130032400-130034800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:130032400-130035200	Weak transcription	Pancreas	Pancrea
32	chr4:130032400-130036400	Weak transcription	Fetal Heart	heart
33	chr4:130032400-130037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:130032400-130038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:130032400-130038200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:130032400-130040000	Weak transcription	Primary T cells from cord blood	blood
37	chr4:130032400-130052200	Weak transcription	Aorta	Aorta
38	chr4:130033400-130036800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:130033600-130036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:130034000-130036800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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