Variant report

Variant	rs2450560
Chromosome Location	chr8:95412238-95412239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:95411859-95412330	GM12878	blood:	n/a	n/a
2	USF2	chr8:95412030-95412333	GM12878	blood:	n/a	n/a
3	MAX	chr8:95412156-95412308	GM12878	blood:	n/a	n/a
4	SPI1	chr8:95411510-95412408	GM12878	blood:	n/a	n/a
5	NFIC	chr8:95411653-95412273	GM12878	blood:	n/a	n/a
6	RUNX3	chr8:95411759-95412296	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RAD54B	TF binding region

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];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778733	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786007	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244209	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255130	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263133	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445698	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445701	0.89[ASN][1000 genomes]
rs2445702	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445713	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445727	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs2448907	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448915	0.89[ASN][1000 genomes]
rs2450248	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]
rs2450249	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]
rs2450550	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450551	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450552	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450555	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.94[ASN][1000 genomes]
rs2450564	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450566	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450574	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450577	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470727	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470730	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[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];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470747	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515097	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515106	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]
rs2515109	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515119	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515120	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515121	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515122	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515132	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515142	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515151	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515160	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515162	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515163	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515164	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515166	0.87[ASN][1000 genomes]
rs2515168	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503419	0.98[ASN][1000 genomes]
rs3098702	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098704	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098727	0.96[EUR][1000 genomes]
rs3099402	0.96[EUR][1000 genomes]
rs3136400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136414	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303696	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007534	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
5	chr8:95382400-95414800	Weak transcription	Gastric	stomach
6	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:95386000-95413400	Weak transcription	NHLF	lung
8	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
9	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
10	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
13	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:95389800-95413000	Weak transcription	Placenta	Placenta
15	chr8:95391800-95412600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
17	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
20	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:95392400-95413200	Weak transcription	Ovary	ovary
23	chr8:95392400-95413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:95392600-95413200	Weak transcription	Fetal Lung	lung
27	chr8:95392600-95413400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:95392600-95417400	Weak transcription	Osteobl	bone
31	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
32	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:95393200-95447000	Weak transcription	K562	blood
35	chr8:95397800-95413000	Weak transcription	Liver	Liver
36	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
37	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
38	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:95402600-95412800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:95402800-95417000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:95404000-95412800	Weak transcription	Brain Anterior Caudate	brain
43	chr8:95404000-95416600	Weak transcription	Brain Germinal Matrix	brain
44	chr8:95404000-95418400	Weak transcription	NH-A	brain
45	chr8:95404200-95413400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:95404200-95416400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95405800-95413800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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