Variant report

Variant	rs57155718
Chromosome Location	chr6:131338365-131338366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:131337749-131338549	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10499180	1.00[ASN][1000 genomes]
rs11968011	1.00[ASN][1000 genomes]
rs1406456	1.00[ASN][1000 genomes]
rs1528863	1.00[ASN][1000 genomes]
rs17060018	1.00[ASN][1000 genomes]
rs1977577	1.00[ASN][1000 genomes]
rs2151070	1.00[ASN][1000 genomes]
rs55677017	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55741945	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55812292	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55909138	1.00[ASN][1000 genomes]
rs56009627	1.00[ASN][1000 genomes]
rs56059620	1.00[ASN][1000 genomes]
rs56091933	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58822839	1.00[ASN][1000 genomes]
rs60446197	1.00[ASN][1000 genomes]
rs60773361	1.00[ASN][1000 genomes]
rs60836114	1.00[ASN][1000 genomes]
rs6908393	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73621523	1.00[ASN][1000 genomes]
rs73621528	1.00[ASN][1000 genomes]
rs73621566	1.00[ASN][1000 genomes]
rs73621574	1.00[ASN][1000 genomes]
rs73621588	1.00[ASN][1000 genomes]
rs73623380	1.00[ASN][1000 genomes]
rs73623396	1.00[ASN][1000 genomes]
rs73623492	1.00[ASN][1000 genomes]
rs73625103	1.00[ASN][1000 genomes]
rs73625624	1.00[ASN][1000 genomes]
rs73774338	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73774368	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73774374	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73774376	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73774379	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73775907	1.00[ASN][1000 genomes]
rs73775910	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73775913	0.96[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7741112	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7761647	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7766938	1.00[ASN][1000 genomes]
rs871628	1.00[ASN][1000 genomes]

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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131332200-131345400	Weak transcription	Left Ventricle	heart
3	chr6:131332800-131339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:131333600-131339200	Weak transcription	Pancreas	Pancrea
5	chr6:131334600-131339000	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:131334800-131342800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:131335200-131343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:131335600-131345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:131336600-131345200	Weak transcription	Ovary	ovary
10	chr6:131337000-131338800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:131337200-131338400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:131337200-131345000	Weak transcription	Hela-S3	cervix
13	chr6:131337200-131345000	Weak transcription	NHLF	lung
14	chr6:131337400-131339000	Weak transcription	Brain Angular Gyrus	brain
15	chr6:131337400-131339600	Weak transcription	HMEC	breast
16	chr6:131337400-131347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:131337600-131345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:131337800-131339200	Weak transcription	Brain Substantia Nigra	brain
19	chr6:131337800-131345000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:131337800-131345000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:131337800-131345200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:131337800-131345400	Weak transcription	Right Atrium	heart
23	chr6:131337800-131351000	Weak transcription	Stomach Mucosa	stomach
24	chr6:131338000-131339000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:131338000-131339200	Weak transcription	Gastric	stomach
26	chr6:131338000-131339400	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:131338000-131339600	Enhancers	A549	lung
28	chr6:131338000-131345000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:131338000-131345000	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:131338000-131345000	Weak transcription	NHDF-Ad	bronchial
31	chr6:131338000-131345200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:131338200-131338800	Weak transcription	Brain Anterior Caudate	brain
33	chr6:131338200-131345200	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:131338200-131345200	Weak transcription	HepG2	liver

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