Variant report

Variant	rs12199352
Chromosome Location	chr6:164186315-164186316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164178512..164183327-chr6:164184288..164188276,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10945921	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10945924	0.81[ASN][1000 genomes]
rs1555229	1.00[JPT][hapmap]
rs16895332	0.82[ASN][1000 genomes]
rs2321978	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2321979	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4709767	0.81[ASN][1000 genomes]
rs4709769	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6455921	0.84[ASN][1000 genomes]
rs6455922	0.82[ASN][1000 genomes]
rs6914115	0.82[ASN][1000 genomes]
rs7740670	0.93[JPT][hapmap]
rs7741716	0.81[EUR][1000 genomes]
rs7741892	0.81[EUR][1000 genomes]
rs7742306	0.86[ASN][1000 genomes]
rs7745234	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7745869	0.81[EUR][1000 genomes]
rs7752799	0.93[ASN][1000 genomes]
rs7765512	0.81[ASN][1000 genomes]
rs9355441	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9356147	0.86[ASN][1000 genomes]
rs9458898	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9458899	0.82[ASN][1000 genomes]
rs9458901	0.84[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv520292	chr6:164174617-164190919	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164182200-164192000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:164184600-164188400	Enhancers	Primary T cells from cord blood	blood
3	chr6:164185000-164187800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:164185000-164188200	Enhancers	Brain Germinal Matrix	brain
5	chr6:164185200-164186600	Enhancers	Fetal Heart	heart
6	chr6:164185400-164186400	Enhancers	Fetal Muscle Leg	muscle
7	chr6:164185400-164186600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:164185600-164186400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:164185600-164186400	Enhancers	Colon Smooth Muscle	Colon
10	chr6:164185600-164186400	Enhancers	Fetal Stomach	stomach
11	chr6:164185600-164186400	Enhancers	Psoas Muscle	Psoas
12	chr6:164185600-164186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:164185600-164186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:164185600-164186800	Enhancers	Left Ventricle	heart
15	chr6:164185600-164187000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:164185800-164186400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:164185800-164186800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:164185800-164186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:164185800-164186800	Enhancers	Brain Angular Gyrus	brain
20	chr6:164185800-164186800	Enhancers	K562	blood
21	chr6:164185800-164187400	Weak transcription	Right Ventricle	heart
22	chr6:164186000-164186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:164186000-164186400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:164186000-164186600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:164186000-164186800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:164186000-164186800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:164186000-164200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:164186200-164186600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:164186200-164186800	Enhancers	HSMMtube	muscle
30	chr6:164186200-164187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:164186200-164187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:164186200-164187400	Weak transcription	NHEK	skin
33	chr6:164186200-164203600	Weak transcription	Right Atrium	heart

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