Variant report

Variant	rs4278180
Chromosome Location	chr8:117726681-117726682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117559500..117561656-chr8:117726423..117728497,2	MCF-7	breast:
2	chr8:117725990..117728034-chr8:117766012..117768818,2	K562	blood:
3	chr8:117726657..117728747-chr8:117735773..117737696,2	MCF-7	breast:
4	chr8:117721346..117724076-chr8:117724107..117727227,4	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10085939	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10086419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10088177	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093551	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10105610	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112279	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];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112604	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505282	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10505286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10505287	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]
rs10808484	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11781970	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547058	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1317271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13258529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13262725	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277714	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13277958	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1347626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436765	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436766	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1529945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118108	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3088140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34519652	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35338453	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35905748	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4256624	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4289846	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289847	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4335152	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4335153	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4422805	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4472547	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4601347	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4623456	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4629900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4645587	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55951040	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469656	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469657	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980504	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983032	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988841	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007250	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464414	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7820778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830860	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7836549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7837313	0.81[JPT][hapmap]
rs7843852	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846316	0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117707200-117726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
3	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
4	chr8:117708400-117727000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:117708400-117727000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:117713200-117730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:117716000-117730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:117716000-117733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:117716400-117727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:117717800-117732600	Weak transcription	Primary B cells from cord blood	blood
14	chr8:117718000-117733400	Weak transcription	Right Ventricle	heart
15	chr8:117718600-117730800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:117718800-117732600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:117719200-117731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:117719200-117732600	Weak transcription	Gastric	stomach
19	chr8:117719200-117732600	Weak transcription	Left Ventricle	heart
20	chr8:117719200-117733200	Weak transcription	Pancreas	Pancrea
21	chr8:117719400-117729000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:117719400-117733200	Weak transcription	Ovary	ovary
23	chr8:117721600-117732600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:117721800-117728000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:117722000-117740800	Weak transcription	NHLF	lung
27	chr8:117722200-117730400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:117722200-117730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:117722400-117726800	Weak transcription	A549	lung
30	chr8:117722400-117731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:117722400-117732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:117722400-117732600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:117722400-117732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:117722400-117732800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:117722400-117732800	Weak transcription	HMEC	breast
36	chr8:117722400-117733200	Weak transcription	Aorta	Aorta
37	chr8:117722400-117733200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
39	chr8:117722600-117726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:117722600-117726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:117722600-117727000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:117722600-117727200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:117722600-117731400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:117722600-117732600	Weak transcription	K562	blood
45	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
46	chr8:117722800-117727000	Weak transcription	Brain Anterior Caudate	brain
47	chr8:117722800-117731400	Weak transcription	Fetal Brain Female	brain
48	chr8:117723000-117727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:117723000-117732600	Weak transcription	Dnd41	blood
50	chr8:117723200-117732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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