Variant report

Variant	rs2442573
Chromosome Location	chr8:6454442-6454443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6444799..6447466-chr8:6452673..6455072,3	K562	blood:
2	chr8:6445030..6447466-chr8:6452102..6454999,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2442575	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2442577	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442579	0.82[GIH][hapmap];0.91[MEX][hapmap]
rs2442580	0.82[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs2442581	0.85[CEU][hapmap]
rs7838154	1.00[CHB][hapmap]
rs7844613	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
3	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:6432400-6457600	Weak transcription	Gastric	stomach
5	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:6443400-6456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:6450400-6454600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:6450800-6456400	Enhancers	Left Ventricle	heart
10	chr8:6451400-6455000	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:6451800-6455600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:6451800-6456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:6452000-6456200	Weak transcription	Hela-S3	cervix
14	chr8:6452000-6459600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:6452200-6455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:6452200-6455400	Weak transcription	HUVEC	blood vessel
17	chr8:6452200-6455800	Strong transcription	Primary T cells from cord blood	blood
18	chr8:6452200-6456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:6452400-6455200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:6452400-6455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6452400-6455600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:6452400-6455600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:6452400-6456400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:6452400-6457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:6452400-6459800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:6452400-6464000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:6452600-6456200	Weak transcription	HMEC	breast
28	chr8:6452800-6455600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:6452800-6455600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:6452800-6455600	Weak transcription	Psoas Muscle	Psoas
31	chr8:6452800-6456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:6452800-6456200	Weak transcription	Brain Germinal Matrix	brain
33	chr8:6452800-6456400	Strong transcription	Thymus	Thymus
34	chr8:6452800-6456600	Weak transcription	Fetal Lung	lung
35	chr8:6452800-6457200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:6453000-6456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:6453000-6456200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:6453000-6456200	Weak transcription	NH-A	brain
39	chr8:6453000-6456400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:6453000-6456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:6453000-6457000	Weak transcription	HSMMtube	muscle
42	chr8:6453200-6454600	Weak transcription	Aorta	Aorta
43	chr8:6453200-6455200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:6453200-6455200	Weak transcription	Lung	lung
45	chr8:6453200-6455400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:6453200-6456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:6453200-6456400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:6453200-6456400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:6453200-6456400	Weak transcription	Brain Substantia Nigra	brain
50	chr8:6453200-6457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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