Variant report

Variant	rs2304765
Chromosome Location	chr8:95549547-95549548
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	chr8:95548641..95550186-chr8:95556999..95558731,2	K562	blood:
2	chr8:95544717..95547053-chr8:95548371..95550507,2	K562	blood:

Variant related genes	Relation type
ENSG00000254315	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11784188	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11786245	0.87[ASN][1000 genomes]
rs11992717	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1866844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978556	0.85[ASN][1000 genomes]
rs2289455	0.80[CEU][hapmap]
rs2890827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096604	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3098705	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098711	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098713	0.89[YRI][hapmap]
rs3098714	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098717	0.89[YRI][hapmap]
rs3098721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098722	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098723	0.89[YRI][hapmap]
rs3098724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099405	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099408	0.89[YRI][hapmap]
rs3099414	0.97[ASN][1000 genomes]
rs3099416	0.85[YRI][hapmap]
rs3099418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099419	0.89[YRI][hapmap]
rs3099420	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3099421	0.89[YRI][hapmap]
rs3099422	0.85[ASN][1000 genomes]
rs3099425	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3102852	0.86[ASN][1000 genomes]
rs3102854	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102856	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102857	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102858	0.89[YRI][hapmap]
rs3102860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102865	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102866	0.89[YRI][hapmap]
rs3102870	0.89[YRI][hapmap]
rs3133598	0.89[YRI][hapmap]
rs3133600	0.87[ASN][1000 genomes]
rs3133636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133644	0.82[YRI][hapmap]
rs3133646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133647	0.89[YRI][hapmap]
rs3133652	0.82[YRI][hapmap]
rs3133659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
5	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:95535400-95556000	Weak transcription	Fetal Heart	heart
9	chr8:95535800-95549800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:95535800-95555600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:95536000-95555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95536400-95552200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:95536800-95549800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:95536800-95550600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:95536800-95551400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:95536800-95552400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95537000-95550600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:95537000-95550600	Strong transcription	Fetal Lung	lung
21	chr8:95537000-95550800	Strong transcription	Dnd41	blood
22	chr8:95537000-95551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:95537000-95552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:95537000-95552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:95537000-95552400	Strong transcription	Primary B cells from cord blood	blood
26	chr8:95537000-95552400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:95537000-95552400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:95537000-95552400	Strong transcription	Adipose Nuclei	Adipose
29	chr8:95537000-95552400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:95537000-95552400	Strong transcription	Placenta	Placenta
31	chr8:95537000-95552600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:95537000-95552600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:95537000-95552600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:95537000-95553400	Strong transcription	Liver	Liver
35	chr8:95537000-95557400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:95537200-95551600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:95537200-95552200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:95537200-95552200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:95537200-95552200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:95537200-95554800	Strong transcription	Fetal Intestine Large	intestine
42	chr8:95537400-95550000	Strong transcription	NH-A	brain
43	chr8:95537400-95551000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:95537400-95552000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:95537400-95552400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:95537800-95550600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:95537800-95550600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:95538200-95549600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:95538200-95552400	Strong transcription	Osteobl	bone
50	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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