Variant report

Variant	rs204236
Chromosome Location	chr6:13733565-13733566
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
2	chr6:13676682..13679479-chr6:13733229..13734919,2	K562	blood:
3	chr6:13732101..13734946-chr6:13735634..13737792,2	K562	blood:
4	chr6:13683514..13685773-chr6:13730850..13733772,2	K562	blood:
5	chr6:13721713..13725590-chr6:13730515..13734730,4	K562	blood:
6	chr6:13711999..13712561-chr6:13733317..13733992,2	MCF-7	breast:
7	chr6:13733229..13735701-chr6:13742601..13744211,2	MCF-7	breast:
8	chr6:13733063..13736009-chr6:13738109..13740804,2	MCF-7	breast:
9	chr6:13726567..13730349-chr6:13731147..13734427,5	K562	blood:

No data

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10456703	1.00[ASN][1000 genomes]
rs169461	0.88[CHB][hapmap];0.95[GIH][hapmap];0.85[MKK][hapmap]
rs204231	0.84[GIH][hapmap]
rs204233	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204234	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204235	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204237	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204238	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204239	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204240	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204242	0.99[ASN][1000 genomes]
rs3752502	0.88[CHB][hapmap];0.92[GIH][hapmap]
rs379844	0.85[ASN][1000 genomes]
rs411094	0.86[ASN][1000 genomes]
rs438942	0.88[ASN][1000 genomes]
rs442458	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59313939	0.92[ASN][1000 genomes]
rs6927142	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9382329	0.88[CHB][hapmap];0.92[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs204236	HIVEP1	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13732400-13734600	Enhancers	Fetal Heart	heart
2	chr6:13733000-13736400	Enhancers	Placenta	Placenta
3	chr6:13733200-13733600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr6:13733200-13733600	Enhancers	Fetal Muscle Leg	muscle
5	chr6:13733200-13733600	Flanking Active TSS	Ovary	ovary
6	chr6:13733200-13733600	Enhancers	NHLF	lung
7	chr6:13733200-13733800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:13733200-13733800	Active TSS	Brain Anterior Caudate	brain
9	chr6:13733200-13733800	Active TSS	Brain Hippocampus Middle	brain
10	chr6:13733200-13733800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:13733200-13733800	Active TSS	Colon Smooth Muscle	Colon
12	chr6:13733200-13733800	Active TSS	A549	lung
13	chr6:13733200-13733800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr6:13733200-13733800	Active TSS	HSMMtube	muscle
15	chr6:13733200-13733800	Flanking Active TSS	K562	blood
16	chr6:13733200-13734000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:13733200-13734000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:13733200-13734000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:13733200-13734000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:13733200-13734000	Active TSS	Fetal Kidney	kidney
21	chr6:13733200-13734000	Enhancers	Fetal Lung	lung
22	chr6:13733200-13734000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:13733200-13734000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr6:13733200-13734000	Enhancers	HSMM	muscle
25	chr6:13733200-13734000	Flanking Active TSS	Osteobl	bone
26	chr6:13733200-13734200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:13733200-13734200	Enhancers	Fetal Stomach	stomach
28	chr6:13733200-13734400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:13733200-13734600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:13733200-13735000	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:13733400-13733600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:13733400-13733600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:13733400-13733600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:13733400-13733600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:13733400-13733600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:13733400-13733600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr6:13733400-13733600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:13733400-13733600	Enhancers	Esophagus	oesophagus
39	chr6:13733400-13733600	Active TSS	Fetal Brain Female	brain
40	chr6:13733400-13733600	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr6:13733400-13733600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr6:13733400-13733600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:13733400-13733600	Active TSS	Hela-S3	cervix
44	chr6:13733400-13733600	Active TSS	NH-A	brain
45	chr6:13733400-13733800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:13733400-13733800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:13733400-13733800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:13733400-13733800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:13733400-13733800	Active TSS	Aorta	Aorta
50	chr6:13733400-13733800	Active TSS	Brain Angular Gyrus	brain

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