Variant report

Variant	rs73507315
Chromosome Location	chr13:67567409-67567410
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	chr13:67562882..67565273-chr13:67566706..67568513,2	K562	blood:

Variant related genes	Relation type
ENSG00000233840	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17082027	1.00[AMR][1000 genomes]
rs181988	1.00[AMR][1000 genomes]
rs195153	0.82[AFR][1000 genomes]
rs260144	1.00[AMR][1000 genomes]
rs260146	1.00[AMR][1000 genomes]
rs28463845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57098915	1.00[AFR][1000 genomes]
rs58417725	1.00[AMR][1000 genomes]
rs58585764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60336902	1.00[AMR][1000 genomes]
rs60525328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73507308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73507310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73507318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73507326	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73507342	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv900407	chr13:67434161-67603745	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv832640	chr13:67460304-67635966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv900412	chr13:67512877-67572221	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv541822	chr13:67550756-67594021	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67565800-67567800	Enhancers	Brain Substantia Nigra	brain
2	chr13:67566200-67567600	Enhancers	Brain Hippocampus Middle	brain
3	chr13:67566200-67568000	Enhancers	Brain Angular Gyrus	brain
4	chr13:67566400-67568000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:67566400-67568200	Enhancers	HMEC	breast
6	chr13:67566400-67568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:67566600-67568200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:67566600-67568200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:67566600-67571400	Weak transcription	Gastric	stomach
10	chr13:67566800-67567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:67566800-67568400	Enhancers	Primary B cells from cord blood	blood
12	chr13:67567000-67567600	Weak transcription	Brain Anterior Caudate	brain
13	chr13:67567000-67567600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:67567000-67567600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:67567000-67568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:67567000-67568200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:67567000-67568200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:67567000-67568200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:67567000-67568200	Weak transcription	HUVEC	blood vessel
20	chr13:67567000-67568400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:67567200-67568200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:67567200-67568200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:67567200-67568200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:67567200-67569000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:67567200-67569600	Active TSS	A549	lung

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