Variant report

Variant	rs17239120
Chromosome Location	chr6:80651902-80651903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80646889..80649492-chr6:80650023..80652919,2	K562	blood:
2	chr6:80649918..80652477-chr6:80718505..80720470,2	K562	blood:

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

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

rs_ID	r²[population]
rs1007416	0.84[MEX][hapmap]
rs1512117	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16891260	0.85[MEX][hapmap]
rs2991	0.85[MEX][hapmap]
rs343689	0.90[ASN][1000 genomes]
rs3812153	0.85[MEX][hapmap]
rs4706806	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7743696	0.85[MEX][hapmap]
rs7754628	0.85[MEX][hapmap]

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	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	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
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
2	chr6:80631000-80653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:80632000-80654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:80638800-80653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:80640200-80654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:80648600-80653000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:80648800-80653000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:80650800-80652000	Enhancers	HUVEC	blood vessel
9	chr6:80650800-80653800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:80651000-80652000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:80651000-80653000	Active TSS	Thymus	Thymus
12	chr6:80651000-80653400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:80651000-80653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:80651000-80655200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:80651000-80655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:80651200-80652000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:80651200-80652000	Enhancers	Brain Anterior Caudate	brain
18	chr6:80651400-80653400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:80651600-80652000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:80651600-80652000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:80651600-80652000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:80651600-80652000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:80651600-80652000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:80651600-80652000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:80651600-80652000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
26	chr6:80651600-80652000	Transcr. at gene 5' and 3'	Dnd41	blood
27	chr6:80651600-80652000	Enhancers	HMEC	breast
28	chr6:80651600-80652400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:80651600-80652600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:80651800-80652000	Enhancers	Fetal Brain Female	brain
31	chr6:80651800-80652800	Weak transcription	Brain Inferior Temporal Lobe	brain

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