Variant report

Variant	rs10031345
Chromosome Location	chr4:56244458-56244459
allele	A/C
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56236823..56239564-chr4:56243563..56245351,2	MCF-7	breast:
2	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
3	chr4:56243121..56245532-chr4:56269359..56271036,2	MCF-7	breast:
4	chr4:56243246..56246194-chr4:56252558..56255228,2	K562	blood:
5	chr4:56232345..56235244-chr4:56243502..56246293,2	MCF-7	breast:
6	chr4:56242859..56244576-chr4:56261774..56264721,2	K562	blood:
7	chr4:56240192..56241907-chr4:56242608..56245605,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRD5A3-1	chr4:56244392-56244870	XLOC_003544

No data

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction
ENSG00000273257	Chromatin interaction
ENSG00000249700	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10010919	0.95[AFR][1000 genomes]
rs10013154	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10016977	0.80[AFR][1000 genomes]
rs10026202	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10155441	0.95[AFR][1000 genomes]
rs11724300	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727642	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11729403	0.84[AMR][1000 genomes]
rs11732684	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28369166	0.95[AFR][1000 genomes]
rs28375967	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28391333	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28418730	0.95[AFR][1000 genomes]
rs28588862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28606621	0.80[AFR][1000 genomes]
rs28653645	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28712413	0.80[AFR][1000 genomes]
rs28873832	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34101807	0.90[AFR][1000 genomes]
rs7356345	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking 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	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
2	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:56225800-56244800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:56225800-56244800	Weak transcription	Stomach Mucosa	stomach
5	chr4:56226000-56245000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:56226000-56245000	Weak transcription	HSMMtube	muscle
7	chr4:56228000-56244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:56228400-56245400	Weak transcription	K562	blood
9	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:56230600-56245200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:56232000-56247600	Weak transcription	Spleen	Spleen
12	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:56234000-56244800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:56235800-56247600	Weak transcription	Aorta	Aorta
15	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:56237000-56245400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:56237000-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:56237200-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:56239000-56245000	Weak transcription	Adipose Nuclei	Adipose
20	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:56240200-56249400	Weak transcription	Left Ventricle	heart
22	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:56240800-56247400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:56241200-56244600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:56243800-56247600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:56244000-56247800	Weak transcription	Brain Anterior Caudate	brain
27	chr4:56244200-56244600	Weak transcription	Brain Substantia Nigra	brain
28	chr4:56244200-56247400	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:56244200-56247600	Weak transcription	Brain Inferior Temporal Lobe	brain

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