Variant report

Variant	rs2236061
Chromosome Location	chr6:44042042-44042043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43745073..43748024-chr6:44039738..44042379,2	K562	blood:
2	chr6:43736197..43742093-chr6:44038080..44048969,27	MCF-7	breast:
3	chr6:43736340..43742918-chr6:44039360..44044949,13	MCF-7	breast:
4	chr6:44040495..44042700-chr6:44055821..44057827,2	K562	blood:
5	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
6	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
7	chr6:43542807..43544586-chr6:44041074..44042840,2	MCF-7	breast:
8	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
9	chr6:43703640..43705628-chr6:44040199..44042446,2	K562	blood:
10	chr6:43595074..43599427-chr6:44040317..44042824,5	K562	blood:
11	chr6:44040972..44043900-chr6:44213898..44215544,2	K562	blood:
12	chr6:43445218..43447769-chr6:44040858..44042571,2	K562	blood:
13	chr6:43967212..43968971-chr6:44040954..44043220,2	K562	blood:
14	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000124571	Chromatin interaction
ENSG00000236961	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000181577	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000137221	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10948121	1.00[AFR][1000 genomes]
rs12191873	1.00[AFR][1000 genomes]
rs12202501	1.00[AFR][1000 genomes]
rs12206795	1.00[AFR][1000 genomes]
rs13210320	0.95[EUR][1000 genomes]
rs2064639	1.00[AFR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes]
rs4628095	1.00[AFR][1000 genomes]
rs4711764	1.00[AFR][1000 genomes]
rs4711766	1.00[AFR][1000 genomes]
rs4714738	1.00[AFR][1000 genomes]
rs4714750	1.00[AFR][1000 genomes]
rs4714754	1.00[AFR][1000 genomes]
rs4714759	1.00[AFR][1000 genomes]
rs62401766	1.00[AFR][1000 genomes]
rs62403186	0.97[EUR][1000 genomes]
rs62403189	1.00[AFR][1000 genomes]
rs9349270	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349271	1.00[AFR][1000 genomes]
rs9349272	1.00[AFR][1000 genomes]
rs9349275	1.00[AFR][1000 genomes]
rs9357432	1.00[AFR][1000 genomes]
rs9369448	1.00[AFR][1000 genomes]
rs9369449	1.00[AFR][1000 genomes]
rs9369450	1.00[AFR][1000 genomes]
rs9369453	1.00[AFR][1000 genomes]
rs9369454	1.00[AFR][1000 genomes]
rs9369457	1.00[AFR][1000 genomes]
rs9381286	0.93[EUR][1000 genomes]
rs9381287	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381294	1.00[AFR][1000 genomes]
rs9394984	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44039000-44043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:44040000-44043400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:44040200-44042800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr6:44040200-44045400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:44040600-44042400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:44040600-44042400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:44041000-44042400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:44041000-44042800	Enhancers	HSMMtube	muscle
9	chr6:44041000-44044600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:44041200-44045400	Enhancers	HMEC	breast
11	chr6:44041400-44042200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:44041400-44042200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr6:44041400-44042200	Flanking Active TSS	Esophagus	oesophagus
14	chr6:44041400-44042200	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr6:44041400-44042200	Flanking Active TSS	NHLF	lung
16	chr6:44041400-44042400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:44041400-44042400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:44041400-44042400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:44041400-44042400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:44041400-44042400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:44041400-44042400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:44041400-44042400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr6:44041400-44042400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:44041400-44042400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:44041400-44042400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:44041400-44042400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr6:44041400-44042400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:44041400-44042400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:44041400-44042400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:44041400-44042400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:44041400-44042400	Flanking Active TSS	Liver	Liver
32	chr6:44041400-44042400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr6:44041400-44042400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr6:44041400-44042400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:44041400-44042400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr6:44041400-44042400	Flanking Active TSS	Colonic Mucosa	Colon
37	chr6:44041400-44042400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr6:44041400-44042400	Flanking Active TSS	Fetal Brain Male	brain
39	chr6:44041400-44042400	Flanking Active TSS	Fetal Brain Female	brain
40	chr6:44041400-44042400	Flanking Active TSS	Fetal Heart	heart
41	chr6:44041400-44042400	Flanking Active TSS	Fetal Lung	lung
42	chr6:44041400-44042400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr6:44041400-44042400	Flanking Active TSS	Fetal Thymus	thymus
44	chr6:44041400-44042400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:44041400-44042400	Flanking Active TSS	Right Ventricle	heart
46	chr6:44041400-44042400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:44041400-44042400	Flanking Active TSS	HSMM	muscle
48	chr6:44041400-44042400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr6:44041400-44042400	Flanking Active TSS	Osteobl	bone
50	chr6:44041400-44042600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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