Variant report

Variant	rs73623501
Chromosome Location	chr6:131339339-131339340
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	chr6:131339188-131339421	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57437525	0.86[AFR][1000 genomes]
rs58237210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60204850	0.86[AFR][1000 genomes]
rs60280151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61039317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617106	0.86[AFR][1000 genomes]
rs73617111	0.86[AFR][1000 genomes]
rs73617128	0.93[AFR][1000 genomes]
rs73617138	0.84[AFR][1000 genomes]
rs73617157	0.86[AFR][1000 genomes]
rs73617169	0.93[AFR][1000 genomes]
rs73617178	0.93[AFR][1000 genomes]
rs73617201	0.93[AFR][1000 genomes]
rs73621548	0.93[AFR][1000 genomes]
rs73621564	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623396	1.00[AMR][1000 genomes]
rs73623492	1.00[AMR][1000 genomes]
rs73623827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625103	1.00[AMR][1000 genomes]
rs73625615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73632226	0.89[AFR][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:31 , 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	chr6:131334800-131342800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:131335200-131343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:131335600-131345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:131336600-131345200	Weak transcription	Ovary	ovary
8	chr6:131337200-131345000	Weak transcription	Hela-S3	cervix
9	chr6:131337200-131345000	Weak transcription	NHLF	lung
10	chr6:131337400-131339600	Weak transcription	HMEC	breast
11	chr6:131337400-131347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:131337600-131345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:131337800-131345000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:131337800-131345000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:131337800-131345200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:131337800-131345400	Weak transcription	Right Atrium	heart
17	chr6:131337800-131351000	Weak transcription	Stomach Mucosa	stomach
18	chr6:131338000-131339400	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:131338000-131339600	Enhancers	A549	lung
20	chr6:131338000-131345000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:131338000-131345000	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:131338000-131345000	Weak transcription	NHDF-Ad	bronchial
23	chr6:131338000-131345200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:131338200-131345200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:131338200-131345200	Weak transcription	HepG2	liver
26	chr6:131338800-131339400	Enhancers	Brain Anterior Caudate	brain
27	chr6:131338800-131340200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:131339000-131339400	Enhancers	Brain Angular Gyrus	brain
29	chr6:131339200-131339600	Enhancers	Brain Substantia Nigra	brain
30	chr6:131339200-131339600	Enhancers	Gastric	stomach
31	chr6:131339200-131339600	Enhancers	Pancreas	Pancrea

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