Variant report

Variant	rs645953
Chromosome Location	chr15:42394368-42394369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42378120..42380874-chr15:42393384..42396333,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs631752	0.85[ASN][1000 genomes]
rs641640	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs645953	EHD4	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42386000-42397600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:42389600-42396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42392400-42395000	Enhancers	NH-A	brain
4	chr15:42392400-42395200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:42392800-42394600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:42393000-42394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:42393000-42394600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:42393000-42394600	Weak transcription	Hela-S3	cervix
9	chr15:42393000-42394600	Weak transcription	HMEC	breast
10	chr15:42393000-42396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:42393000-42399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:42393000-42399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:42393000-42399800	Weak transcription	Right Atrium	heart
14	chr15:42393200-42394600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:42393200-42394600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:42393200-42394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:42393200-42394600	Weak transcription	Lung	lung
18	chr15:42393200-42394600	Weak transcription	HUVEC	blood vessel
19	chr15:42393200-42394600	Weak transcription	NHEK	skin
20	chr15:42393200-42395000	Weak transcription	Placenta	Placenta
21	chr15:42393200-42395000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:42393200-42396600	Weak transcription	Adipose Nuclei	Adipose
23	chr15:42393200-42397600	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:42393200-42398000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42393200-42399000	Weak transcription	Esophagus	oesophagus
26	chr15:42393200-42399000	Weak transcription	Gastric	stomach
27	chr15:42393400-42394400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:42393400-42396200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr15:42393600-42396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:42393600-42397600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:42394000-42395400	Enhancers	HSMM	muscle
32	chr15:42394200-42394400	Enhancers	Stomach Mucosa	stomach

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