Variant report

Variant	rs12527512
Chromosome Location	chr6:80357176-80357177
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80350361..80354281-chr6:80355740..80359649,5	K562	blood:
2	chr6:80355101..80357190-chr6:80359761..80362377,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525799	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12526644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527526	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530052	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17505891	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1883879	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34532743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812155	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649340	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55781748	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72901825	1.00[AFR][1000 genomes]
rs72905738	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72905744	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72905757	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80341800-80357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:80341800-80358600	Weak transcription	HSMM	muscle
3	chr6:80342800-80358600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:80344800-80357200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:80345400-80363200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:80345600-80358200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:80345600-80359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:80350600-80357600	Weak transcription	Adipose Nuclei	Adipose
9	chr6:80350600-80373600	Weak transcription	Gastric	stomach
10	chr6:80351000-80358200	Weak transcription	Spleen	Spleen
11	chr6:80351000-80361200	Weak transcription	Psoas Muscle	Psoas
12	chr6:80351200-80357200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:80351400-80357200	Weak transcription	Fetal Kidney	kidney
14	chr6:80351400-80359400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:80352400-80360600	Enhancers	Stomach Mucosa	stomach
16	chr6:80352600-80357200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:80352800-80363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:80353000-80357200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:80353000-80357600	Weak transcription	HepG2	liver
20	chr6:80353200-80360200	Weak transcription	Left Ventricle	heart
21	chr6:80353600-80357600	Weak transcription	Fetal Intestine Large	intestine
22	chr6:80354200-80358200	Weak transcription	Brain Angular Gyrus	brain
23	chr6:80354200-80358200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:80354200-80358800	Weak transcription	Brain Anterior Caudate	brain
25	chr6:80354200-80359600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:80354200-80359800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:80355600-80358600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:80356000-80358400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:80356000-80359000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:80356000-80359600	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:80356200-80357600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:80356200-80357600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:80356200-80357600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:80356200-80358200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:80356200-80358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:80356200-80358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:80356600-80357400	Enhancers	NH-A	brain
38	chr6:80356600-80357600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:80356800-80357200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:80356800-80360000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:80356800-80361600	Enhancers	HUVEC	blood vessel
42	chr6:80357000-80357800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:80357000-80358600	Weak transcription	Small Intestine	intestine

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