Variant report

Variant	rs13083485
Chromosome Location	chr3:116001491-116001492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:116001314..116005313-chr3:116007754..116010441,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13066016	0.97[EUR][1000 genomes]
rs13069169	0.81[EUR][1000 genomes]
rs13084538	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13089283	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13089698	0.97[EUR][1000 genomes]
rs13090417	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13100898	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1346944	0.94[EUR][1000 genomes]
rs16824766	0.97[EUR][1000 genomes]
rs17645807	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17702560	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17702806	0.97[EUR][1000 genomes]
rs34126529	0.86[EUR][1000 genomes]
rs34279063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34408946	0.91[EUR][1000 genomes]
rs34905742	0.91[EUR][1000 genomes]
rs35538266	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35966018	0.94[EUR][1000 genomes]
rs71323438	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71323439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs960082	0.94[EUR][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	nsv877360	chr3:115916171-116023990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv3957	chr3:115986950-116032625	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115987400-116006200	Weak transcription	Brain Angular Gyrus	brain
2	chr3:115997200-116017200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:115998200-116006000	Weak transcription	Brain Germinal Matrix	brain
4	chr3:115999400-116014000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:115999600-116003800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:115999600-116004000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:115999600-116004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:115999600-116006200	Weak transcription	Fetal Lung	lung
9	chr3:115999800-116002000	Enhancers	Colon Smooth Muscle	Colon
10	chr3:115999800-116003800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:115999800-116004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:115999800-116004200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:115999800-116006000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:116000000-116003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:116000000-116004000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:116000200-116002000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:116000400-116002000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:116000400-116004600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:116000400-116006000	Weak transcription	Brain Substantia Nigra	brain
20	chr3:116000600-116006400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:116000800-116005200	Weak transcription	Fetal Brain Male	brain
22	chr3:116000800-116006000	Weak transcription	Fetal Brain Female	brain
23	chr3:116000800-116006200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:116001400-116006000	Weak transcription	Brain Hippocampus Middle	brain

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