Variant report

Variant	rs12216223
Chromosome Location	chr6:73265537-73265538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73265060..73267575-chr6:73276770..73278945,2	K562	blood:
2	chr6:73185336..73188138-chr6:73263615..73266240,2	K562	blood:
3	chr6:73247420..73248963-chr6:73263884..73266355,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10447318	1.00[CHB][hapmap]
rs10447319	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10455265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805962	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10805963	1.00[ASN][1000 genomes]
rs10943028	1.00[ASN][1000 genomes]
rs10943029	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10943030	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11754088	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756583	1.00[ASN][1000 genomes]
rs12154175	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12190317	1.00[ASN][1000 genomes]
rs12194365	1.00[ASN][1000 genomes]
rs12194589	1.00[ASN][1000 genomes]
rs12194594	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12207905	1.00[ASN][1000 genomes]
rs12207993	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12209479	1.00[ASN][1000 genomes]
rs12210205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216052	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13195485	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1334343	1.00[ASN][1000 genomes]
rs17691724	1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28652881	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34772650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35490354	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6912302	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946202	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764686	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776072	1.00[ASN][1000 genomes]
rs9293887	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446692	1.00[CEU][hapmap];1.00[CHB][hapmap]

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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73261000-73266000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:73261200-73265800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:73262200-73266000	Enhancers	HSMM	muscle
4	chr6:73262200-73266200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:73262400-73265800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:73262600-73265800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:73262600-73266000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:73262600-73266600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:73263800-73265600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:73263800-73267800	Enhancers	K562	blood
11	chr6:73263800-73271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:73264000-73265600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:73264000-73265600	Enhancers	HMEC	breast
14	chr6:73264000-73266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:73264400-73265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:73264600-73265600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:73264600-73265600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:73264600-73265600	Enhancers	Fetal Muscle Leg	muscle
19	chr6:73264600-73265600	Enhancers	A549	lung
20	chr6:73264600-73266400	Enhancers	NHEK	skin
21	chr6:73264800-73266600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:73265000-73265600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:73265000-73266200	Enhancers	Osteobl	bone
24	chr6:73265000-73266600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:73265000-73266600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:73265000-73270400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:73265000-73270600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:73265200-73265600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:73265200-73268400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:73265200-73269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:73265200-73270400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:73265400-73268200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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