Variant report

Variant	rs7335220
Chromosome Location	chr13:50189999-50190000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12429055	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429621	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17073175	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2296502	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55693373	0.92[EUR][1000 genomes]
rs67033206	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67360567	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190794	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7323959	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324615	1.00[JPT][hapmap]
rs7327293	0.85[ASW][hapmap];0.83[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs7332484	0.83[AFR][1000 genomes]
rs7336147	0.90[EUR][1000 genomes]
rs7995006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9316456	0.82[CHB][hapmap]
rs9591288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9596158	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671042	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS 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 target site	10 gene(s)	inside rSNPs	diseases
6	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
9	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7335220	EBPL	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50181200-50192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:50181400-50194400	Weak transcription	Right Ventricle	heart
3	chr13:50183800-50190200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:50184600-50193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50189200-50192800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:50189400-50190000	Enhancers	Lung	lung
7	chr13:50189600-50190000	Enhancers	Fetal Heart	heart
8	chr13:50189600-50190200	Enhancers	Left Ventricle	heart
9	chr13:50189600-50190200	Enhancers	Spleen	Spleen
10	chr13:50189600-50190400	Enhancers	HUVEC	blood vessel
11	chr13:50189600-50191000	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:50189600-50191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:50189600-50191200	Enhancers	Fetal Stomach	stomach
14	chr13:50189600-50191400	Enhancers	Fetal Muscle Leg	muscle
15	chr13:50189800-50190000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr13:50189800-50190000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:50189800-50190000	Enhancers	Fetal Muscle Trunk	muscle
18	chr13:50189800-50190200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr13:50189800-50190400	Enhancers	Brain Angular Gyrus	brain
20	chr13:50189800-50190400	Enhancers	Brain Cingulate Gyrus	brain
21	chr13:50189800-50190400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:50189800-50190600	Enhancers	Ovary	ovary
23	chr13:50189800-50190600	Enhancers	Right Atrium	heart
24	chr13:50189800-50190600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr13:50189800-50190800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:50189800-50191000	Enhancers	Fetal Thymus	thymus
27	chr13:50189800-50191200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:50189800-50191200	Enhancers	Adipose Nuclei	Adipose
29	chr13:50189800-50191200	Enhancers	NHDF-Ad	bronchial
30	chr13:50189800-50192400	Enhancers	Fetal Lung	lung

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