Variant report

Variant	rs56850307
Chromosome Location	chr6:13241833-13241834
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	chr6:13238401..13240269-chr6:13241272..13242998,2	K562	blood:
2	chr6:13241474..13243088-chr6:13272742..13274411,2	K562	blood:

Variant related genes	Relation type
ENSG00000215022	Chromatin interaction
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11970697	1.00[EUR][1000 genomes]
rs1398299	1.00[EUR][1000 genomes]
rs16873890	1.00[EUR][1000 genomes]
rs16873911	1.00[EUR][1000 genomes]
rs2000372	1.00[EUR][1000 genomes]
rs2000373	1.00[EUR][1000 genomes]
rs2000374	1.00[EUR][1000 genomes]
rs202057	0.83[AFR][1000 genomes]
rs202061	0.85[AFR][1000 genomes]
rs34295856	1.00[EUR][1000 genomes]
rs559205	1.00[EUR][1000 genomes]
rs56796209	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61017997	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61059365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6458615	1.00[EUR][1000 genomes]
rs6901091	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903869	1.00[EUR][1000 genomes]
rs6906831	1.00[EUR][1000 genomes]
rs6908840	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6909931	1.00[EUR][1000 genomes]
rs6910469	1.00[EUR][1000 genomes]
rs6910939	1.00[EUR][1000 genomes]
rs6911906	1.00[EUR][1000 genomes]
rs6913698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6922653	1.00[EUR][1000 genomes]
rs6923943	1.00[EUR][1000 genomes]
rs6927426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6936929	1.00[EUR][1000 genomes]
rs73355365	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73357154	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73357161	1.00[EUR][1000 genomes]
rs73357163	1.00[EUR][1000 genomes]
rs73357179	1.00[EUR][1000 genomes]
rs73357182	1.00[EUR][1000 genomes]
rs73368123	1.00[EUR][1000 genomes]
rs73368194	1.00[EUR][1000 genomes]
rs73725636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73725637	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7749076	1.00[EUR][1000 genomes]
rs7767573	1.00[EUR][1000 genomes]
rs9463542	1.00[EUR][1000 genomes]
rs9473675	1.00[EUR][1000 genomes]
rs9473677	1.00[EUR][1000 genomes]
rs9473688	1.00[EUR][1000 genomes]
rs9473689	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432849	chr6:13225077-13253733	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	esv1815942	chr6:13235495-13250588	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817130	chr6:13235495-13250588	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1830412	chr6:13235495-13250588	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1832850	chr6:13235495-13250588	Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1846185	chr6:13235495-13250588	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1848354	chr6:13235495-13250588	Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13217800-13242400	Weak transcription	Pancreas	Pancrea
2	chr6:13227800-13244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:13229400-13248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:13230200-13242400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:13230600-13253400	Weak transcription	Spleen	Spleen
6	chr6:13230800-13248000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:13231200-13248200	Weak transcription	Fetal Stomach	stomach
8	chr6:13232800-13243800	Weak transcription	Fetal Brain Female	brain
9	chr6:13233200-13256000	Weak transcription	Right Ventricle	heart
10	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:13235200-13248200	Weak transcription	HSMMtube	muscle
12	chr6:13236000-13248000	Weak transcription	Brain Germinal Matrix	brain
13	chr6:13237000-13243800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:13237600-13252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:13239000-13253200	Weak transcription	Aorta	Aorta
16	chr6:13240000-13248000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:13240200-13242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13240200-13248000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:13240200-13248000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:13240200-13248200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:13240200-13251200	Weak transcription	Left Ventricle	heart
22	chr6:13240400-13248000	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:13240600-13242600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:13240800-13242800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:13241200-13250200	Weak transcription	Fetal Heart	heart
26	chr6:13241400-13242200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:13241400-13242800	Strong transcription	Lung	lung
28	chr6:13241600-13244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:13241600-13251200	Weak transcription	Stomach Smooth Muscle	stomach

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