Variant report

Variant	rs1001487
Chromosome Location	chr4:141868515-141868516
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	chr4:141858527..141861200-chr4:141868423..141870294,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11724213	0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs11730659	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11944147	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs12504223	0.84[EUR][1000 genomes]
rs1346056	0.84[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes]
rs1364877	0.91[EUR][1000 genomes]
rs1425426	0.92[EUR][1000 genomes]
rs17424664	0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1895756	0.92[EUR][1000 genomes]
rs2321685	0.91[EUR][1000 genomes]
rs2321686	0.91[EUR][1000 genomes]
rs2321687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35486006	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4956338	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6537023	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]
rs6850499	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6852883	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs6857782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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
rs1001487	ELMOD2	cis	cerebellum	SCAN
rs1001487	RAB33B	cis	parietal	SCAN
rs1001487	SMARCA5	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
2	chr4:141859600-141868800	Weak transcription	A549	lung
3	chr4:141859800-141875200	Weak transcription	Fetal Lung	lung
4	chr4:141861400-141876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:141861400-141876600	Weak transcription	Aorta	Aorta
6	chr4:141862200-141891000	Weak transcription	Psoas Muscle	Psoas
7	chr4:141863800-141880600	Weak transcription	Left Ventricle	heart
8	chr4:141864200-141879200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:141864400-141868600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:141865800-141868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:141865800-141876600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:141866000-141868600	Weak transcription	Ovary	ovary
13	chr4:141866200-141870200	Weak transcription	Brain Germinal Matrix	brain
14	chr4:141866200-141870600	Weak transcription	Fetal Heart	heart
15	chr4:141866200-141875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:141866200-141876200	Weak transcription	Fetal Stomach	stomach
17	chr4:141866400-141868600	Weak transcription	NHLF	lung
18	chr4:141866400-141868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:141866400-141873600	Weak transcription	NH-A	brain
20	chr4:141866600-141868600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:141866600-141873600	Weak transcription	Osteobl	bone
22	chr4:141867200-141868800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:141867200-141869000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:141867600-141869000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr4:141867600-141870400	Enhancers	Colon Smooth Muscle	Colon
26	chr4:141867800-141879000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:141868200-141868800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:141868200-141870200	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:141868400-141868600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:141868400-141868600	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:141868400-141869000	Enhancers	NHEK	skin
32	chr4:141868400-141869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:141868400-141869200	Enhancers	HUVEC	blood vessel

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