Variant report

Variant	rs2450248
Chromosome Location	chr8:95443490-95443491
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	chr8:95434502..95438276-chr8:95441146..95446197,5	K562	blood:
2	chr8:95443110..95445447-chr8:95447774..95450176,4	K562	blood:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10956912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778733	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786007	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255130	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263133	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445698	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445701	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2445702	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445727	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs2448907	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448915	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2450249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450551	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450552	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450555	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450562	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2450564	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2450566	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450571	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450574	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450577	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470729	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470734	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470738	0.83[ASN][1000 genomes]
rs2470741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470747	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515105	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515119	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515120	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515121	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515122	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515132	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515151	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515162	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515163	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515166	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515168	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503419	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3098702	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098704	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098727	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3099402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136414	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303696	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95393200-95447000	Weak transcription	K562	blood
2	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
3	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95430400-95447200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:95430600-95446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:95430600-95447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:95430600-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:95430800-95446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:95431000-95445400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:95431000-95446800	Weak transcription	HMEC	breast
12	chr8:95431000-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:95431000-95447400	Weak transcription	HSMM	muscle
14	chr8:95431000-95447400	Weak transcription	NHDF-Ad	bronchial
15	chr8:95431000-95448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95431000-95448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:95433600-95446400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:95433800-95444400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:95433800-95447200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:95434000-95443800	Weak transcription	A549	lung
22	chr8:95434000-95447400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:95438200-95447600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:95439000-95445200	Weak transcription	HepG2	liver
25	chr8:95440800-95443800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:95441400-95446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:95441400-95446400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:95441400-95446400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:95441600-95445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:95441800-95446400	Weak transcription	Brain Germinal Matrix	brain
31	chr8:95441800-95448600	Weak transcription	Hela-S3	cervix
32	chr8:95442000-95447600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:95442200-95447200	Weak transcription	Right Ventricle	heart
34	chr8:95442200-95447200	Weak transcription	HUVEC	blood vessel
35	chr8:95442400-95445200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:95442400-95447200	Weak transcription	Fetal Kidney	kidney
37	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:95442800-95444000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:95443000-95443600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:95443000-95443600	Weak transcription	HSMMtube	muscle
41	chr8:95443000-95444800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:95443000-95445600	Strong transcription	Dnd41	blood
43	chr8:95443200-95443800	Strong transcription	GM12878-XiMat	blood
44	chr8:95443200-95444000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:95443200-95444000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:95443200-95444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:95443200-95445000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:95443200-95446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:95443200-95446400	Weak transcription	Fetal Lung	lung
50	chr8:95443200-95447200	Weak transcription	H9 Cell Line	embryonic stem cell

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