Variant report

Variant	rs60458441
Chromosome Location	chr13:53361953-53361954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10454633	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12385882	0.80[AFR][1000 genomes]
rs28678691	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73492109	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73492132	1.00[AFR][1000 genomes]
rs9591463	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9596677	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv561650	chr13:53357729-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3518185	chr13:53357793-53363410	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3518196	chr13:53357793-53363410	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv14033	chr13:53357904-53363179	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv561652	chr13:53357923-53362235	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv517434	chr13:53357923-53362695	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv561653	chr13:53357923-53362695	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv561654	chr13:53357923-53363039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv561655	chr13:53357923-53366885	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv561656	chr13:53358100-53362695	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv561658	chr13:53358598-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv561659	chr13:53358598-53367433	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv561660	chr13:53358930-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv1054476	chr13:53359853-53380149	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53358800-53362000	Enhancers	Brain Cingulate Gyrus	brain
2	chr13:53359400-53362000	Enhancers	Brain Anterior Caudate	brain
3	chr13:53359400-53362200	Enhancers	Brain Hippocampus Middle	brain
4	chr13:53359400-53362400	Enhancers	Brain Substantia Nigra	brain
5	chr13:53359600-53362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:53359600-53362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:53360000-53362000	Enhancers	HMEC	breast
8	chr13:53360800-53362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:53361000-53362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:53361000-53362600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:53361200-53362400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:53361400-53362000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:53361400-53362400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:53361400-53362600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:53361600-53362400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr13:53361600-53362400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:53361800-53362200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:53361800-53362200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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