Variant report

Variant	rs6537023
Chromosome Location	chr4:141865303-141865304
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	chr4:141864985..141866884-chr4:141889124..141891392,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1001487	0.88[CEU][hapmap];0.89[CHB][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs11730659	0.91[EUR][1000 genomes]
rs11944147	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346056	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364877	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1425426	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1425446	0.81[CHD][hapmap]
rs17424664	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs1895756	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2321685	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2321686	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2321687	0.91[EUR][1000 genomes]
rs35486006	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4956338	0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs6857782	0.91[EUR][1000 genomes]

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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6537023	RAB33B	cis	parietal	SCAN
rs6537023	ELMOD2	cis	cerebellum	SCAN
rs6537023	SMARCA5	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141855600-141867600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
3	chr4:141859400-141866200	Enhancers	Fetal Heart	heart
4	chr4:141859600-141868800	Weak transcription	A549	lung
5	chr4:141859800-141875200	Weak transcription	Fetal Lung	lung
6	chr4:141860400-141865400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:141861400-141865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:141861400-141865400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:141861400-141867400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:141861400-141876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:141861400-141876600	Weak transcription	Aorta	Aorta
12	chr4:141861800-141868400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:141862000-141865400	Weak transcription	Right Ventricle	heart
14	chr4:141862200-141891000	Weak transcription	Psoas Muscle	Psoas
15	chr4:141863600-141865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:141863800-141867200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:141863800-141880600	Weak transcription	Left Ventricle	heart
18	chr4:141864000-141866000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:141864000-141866400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:141864000-141866400	Enhancers	Colon Smooth Muscle	Colon
21	chr4:141864200-141865400	Weak transcription	Ovary	ovary
22	chr4:141864200-141866600	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:141864200-141879200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:141864400-141866400	Enhancers	NHLF	lung
25	chr4:141864400-141868600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:141864600-141866400	Enhancers	HSMMtube	muscle
27	chr4:141864800-141865600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr4:141864800-141865600	Flanking Active TSS	NHDF-Ad	bronchial
29	chr4:141864800-141865800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:141864800-141865800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:141864800-141865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:141864800-141865800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:141864800-141865800	Flanking Active TSS	Osteobl	bone
34	chr4:141864800-141866200	Enhancers	Fetal Stomach	stomach
35	chr4:141864800-141866200	Enhancers	HSMM	muscle
36	chr4:141864800-141866400	Enhancers	Adipose Nuclei	Adipose
37	chr4:141865000-141865800	Flanking Active TSS	NH-A	brain
38	chr4:141865200-141865600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:141865200-141867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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