Variant report

Variant	rs2000372
Chromosome Location	chr6:13260015-13260016
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13258411..13260332-chr6:13262942..13264802,3	K562	blood:
2	chr6:13258722..13261158-chr6:13272393..13274593,2	K562	blood:
3	chr6:13259737..13263124-chr6:13265994..13271257,6	K562	blood:
4	chr6:13258559..13263124-chr6:13265994..13271116,8	K562	blood:
5	chr6:13258411..13260332-chr6:13262942..13264673,2	K562	blood:
6	chr6:13258722..13261158-chr6:13272026..13274593,3	K562	blood:

Variant related genes	Relation type
ENSG00000112137	Chromatin interaction
ENSG00000215022	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11970697	1.00[EUR][1000 genomes]
rs1398299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873890	1.00[EUR][1000 genomes]
rs16873911	1.00[EUR][1000 genomes]
rs2000373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000374	1.00[EUR][1000 genomes]
rs34295856	1.00[EUR][1000 genomes]
rs559205	1.00[EUR][1000 genomes]
rs56796209	1.00[EUR][1000 genomes]
rs56850307	1.00[EUR][1000 genomes]
rs61017997	1.00[EUR][1000 genomes]
rs61059365	1.00[EUR][1000 genomes]
rs6458615	1.00[EUR][1000 genomes]
rs6901091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906831	1.00[EUR][1000 genomes]
rs6908840	1.00[EUR][1000 genomes]
rs6910469	1.00[EUR][1000 genomes]
rs6910939	1.00[EUR][1000 genomes]
rs6911906	1.00[EUR][1000 genomes]
rs6913698	1.00[EUR][1000 genomes]
rs6922653	1.00[EUR][1000 genomes]
rs6923943	1.00[EUR][1000 genomes]
rs6927426	1.00[EUR][1000 genomes]
rs6936929	1.00[EUR][1000 genomes]
rs73355365	1.00[EUR][1000 genomes]
rs73357154	1.00[EUR][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]
rs73368194	1.00[EUR][1000 genomes]
rs73725636	1.00[EUR][1000 genomes]
rs73725637	1.00[EUR][1000 genomes]
rs7749076	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]
rs9474154	1.00[EUR][1000 genomes]
rs9474175	1.00[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	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
2	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
3	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
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:13248600-13260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:13248800-13266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:13249000-13266000	Weak transcription	Fetal Brain Female	brain
5	chr6:13249200-13272200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
7	chr6:13253000-13264200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:13254000-13260200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:13254000-13265400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:13254200-13261200	Weak transcription	Lung	lung
11	chr6:13255800-13260800	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:13256000-13260400	Enhancers	Primary B cells from cord blood	blood
13	chr6:13256400-13266400	Weak transcription	Aorta	Aorta
14	chr6:13256600-13260400	Weak transcription	Spleen	Spleen
15	chr6:13256600-13261200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:13256600-13266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:13256600-13267000	Weak transcription	Fetal Stomach	stomach
18	chr6:13256600-13268800	Weak transcription	Right Ventricle	heart
19	chr6:13256600-13272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:13256600-13273200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
22	chr6:13256800-13262200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:13257000-13261800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:13257400-13263000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:13257600-13260200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:13257600-13260600	Weak transcription	Adipose Nuclei	Adipose
27	chr6:13257600-13262200	Weak transcription	Liver	Liver
28	chr6:13258000-13263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:13258200-13260400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:13258200-13260400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:13258600-13263400	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:13258800-13272200	Weak transcription	Left Ventricle	heart
33	chr6:13259200-13261200	Weak transcription	Thymus	Thymus
34	chr6:13259400-13267400	Weak transcription	Fetal Heart	heart
35	chr6:13259600-13263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:13259800-13260600	Enhancers	Brain Germinal Matrix	brain
37	chr6:13259800-13261000	Enhancers	Brain Substantia Nigra	brain
38	chr6:13259800-13261000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:13259800-13261800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:13259800-13262600	Enhancers	Primary T cells from cord blood	blood
41	chr6:13259800-13266800	Weak transcription	K562	blood
42	chr6:13260000-13261600	Enhancers	Brain Hippocampus Middle	brain
43	chr6:13260000-13262600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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