Variant report

Variant	rs1745250
Chromosome Location	chr4:74540479-74540480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74540328..74542600-chr4:74921575..74923536,2	K562	blood:
2	chr4:74539900..74543106-chr4:75022798..75026628,3	K562	blood:

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10019994	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1247684	1.00[ASN][1000 genomes]
rs1406499	1.00[ASN][1000 genomes]
rs16849896	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs1919480	1.00[ASN][1000 genomes]
rs2463883	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41265663	1.00[ASN][1000 genomes]
rs41265665	1.00[ASN][1000 genomes]
rs4285054	1.00[ASN][1000 genomes]
rs4694634	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59078835	1.00[ASN][1000 genomes]
rs59640098	1.00[ASN][1000 genomes]
rs59879767	1.00[ASN][1000 genomes]
rs6446943	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6446952	1.00[ASN][1000 genomes]
rs6813414	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6818282	1.00[ASN][1000 genomes]
rs6848823	1.00[ASN][1000 genomes]
rs6855652	1.00[ASN][1000 genomes]
rs72856614	1.00[ASN][1000 genomes]
rs72856618	1.00[ASN][1000 genomes]
rs72856622	1.00[ASN][1000 genomes]
rs72856634	1.00[ASN][1000 genomes]
rs72856638	1.00[ASN][1000 genomes]
rs72856640	1.00[ASN][1000 genomes]
rs72856641	1.00[ASN][1000 genomes]
rs72856648	1.00[ASN][1000 genomes]
rs72856650	1.00[ASN][1000 genomes]
rs72856656	1.00[ASN][1000 genomes]
rs72856662	1.00[ASN][1000 genomes]
rs72856664	1.00[ASN][1000 genomes]
rs72856685	1.00[ASN][1000 genomes]
rs72856690	1.00[ASN][1000 genomes]
rs72856699	1.00[ASN][1000 genomes]
rs72858926	1.00[ASN][1000 genomes]
rs72858930	1.00[ASN][1000 genomes]
rs72858933	1.00[ASN][1000 genomes]
rs72858937	1.00[ASN][1000 genomes]
rs72858939	1.00[ASN][1000 genomes]
rs72858993	1.00[ASN][1000 genomes]
rs72863008	1.00[ASN][1000 genomes]
rs72863014	1.00[ASN][1000 genomes]
rs72863061	1.00[ASN][1000 genomes]
rs72863074	1.00[ASN][1000 genomes]
rs72863084	1.00[ASN][1000 genomes]
rs72863086	1.00[ASN][1000 genomes]
rs72863093	1.00[ASN][1000 genomes]
rs72865421	1.00[ASN][1000 genomes]
rs72865434	1.00[ASN][1000 genomes]
rs72865438	1.00[ASN][1000 genomes]
rs72865440	1.00[ASN][1000 genomes]
rs72865454	1.00[ASN][1000 genomes]
rs72865456	1.00[ASN][1000 genomes]
rs72865458	1.00[ASN][1000 genomes]
rs72865462	1.00[ASN][1000 genomes]
rs72865466	1.00[ASN][1000 genomes]
rs72865471	1.00[ASN][1000 genomes]
rs72865474	1.00[ASN][1000 genomes]
rs72865476	1.00[ASN][1000 genomes]
rs72865480	1.00[ASN][1000 genomes]
rs72865485	1.00[ASN][1000 genomes]
rs72865492	1.00[ASN][1000 genomes]
rs73827890	0.83[AMR][1000 genomes]
rs7663473	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7663880	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7666794	1.00[ASN][1000 genomes]
rs7680894	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7681278	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7684080	1.00[ASN][1000 genomes]
rs7698909	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74535400-74541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:74536000-74542000	Weak transcription	Fetal Stomach	stomach
3	chr4:74536000-74548400	Weak transcription	Stomach Mucosa	stomach
4	chr4:74536200-74542600	Weak transcription	Right Atrium	heart
5	chr4:74536600-74541800	Weak transcription	Fetal Lung	lung
6	chr4:74536600-74542000	Weak transcription	Ovary	ovary
7	chr4:74539200-74543200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:74540000-74540800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:74540000-74542400	Enhancers	NHEK	skin
10	chr4:74540000-74542800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:74540000-74543800	Enhancers	HMEC	breast
12	chr4:74540200-74540600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:74540200-74540600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:74540200-74540600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:74540200-74540600	Enhancers	Esophagus	oesophagus
16	chr4:74540200-74540600	Enhancers	NH-A	brain
17	chr4:74540200-74540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:74540200-74540800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:74540200-74540800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:74540200-74540800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:74540200-74540800	Enhancers	Fetal Muscle Leg	muscle
22	chr4:74540200-74540800	Enhancers	NHDF-Ad	bronchial
23	chr4:74540200-74540800	Enhancers	NHLF	lung
24	chr4:74540200-74541000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:74540200-74543400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:74540200-74543400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:74540400-74540600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:74540400-74540800	Enhancers	Adipose Nuclei	Adipose
29	chr4:74540400-74540800	Enhancers	Osteobl	bone
30	chr4:74540400-74542200	Enhancers	K562	blood
31	chr4:74540400-74542600	Weak transcription	Pancreas	Pancrea

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