Variant report

Variant	rs12598124
Chromosome Location	chr16:52103468-52103469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:52103205..52103981-chr16:52895320..52896306,2	MCF-7	breast:
2	chr16:52103399..52104368-chr16:52946243..52947550,6	MCF-7	breast:
3	chr16:52103407..52104190-chr16:53056443..53056999,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10521048	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs13329846	0.98[ASN][1000 genomes]
rs13332583	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16950794	1.00[YRI][hapmap]
rs17185747	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs9921945	0.98[ASN][1000 genomes]
rs9922470	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs9930734	0.98[ASN][1000 genomes]
rs9936886	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492248	chr16:51681902-52456082	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv34024	chr16:51878565-52316530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv827650	chr16:52067728-52124369	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1058257	chr16:52093549-52271815	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52101400-52110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:52101600-52104200	Enhancers	Brain Hippocampus Middle	brain
3	chr16:52101600-52107600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:52102000-52103600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:52102200-52103600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:52102600-52104400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:52102600-52104400	Enhancers	Brain Germinal Matrix	brain
8	chr16:52102800-52103800	Weak transcription	Small Intestine	intestine
9	chr16:52102800-52104200	Enhancers	Brain Angular Gyrus	brain
10	chr16:52102800-52104200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr16:52102800-52105000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:52103000-52103800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr16:52103000-52104000	Weak transcription	Brain Anterior Caudate	brain
14	chr16:52103000-52104000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:52103000-52104000	Weak transcription	Fetal Stomach	stomach
16	chr16:52103000-52104000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:52103000-52104000	Weak transcription	Stomach Mucosa	stomach
18	chr16:52103000-52104200	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:52103000-52104200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:52103000-52104200	Enhancers	Brain Substantia Nigra	brain
21	chr16:52103000-52106600	Weak transcription	Fetal Lung	lung
22	chr16:52103000-52112600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:52103400-52104200	Enhancers	HUES64 Cell Line	embryonic stem cell

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