Variant report

Variant	rs2490234
Chromosome Location	chr6:80816966-80816967
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	chr6:80816628..80819022-chr6:80824130..80826174,2	K562	blood:
2	chr6:80815077..80817880-chr6:80835991..80839240,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083123	Chromatin interaction

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

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

rs_ID	r²[population]
rs10943698	0.84[ASN][1000 genomes]
rs12209624	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1359239	0.90[CHB][hapmap]
rs1408292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1535825	1.00[CHB][hapmap]
rs1575541	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1892474	0.82[EUR][1000 genomes]
rs1892475	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256531	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298307	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2322628	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2322632	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2322633	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2322635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476826	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2490239	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2490241	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490244	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2490245	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2490250	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2490251	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2505927	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2505929	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2505930	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2505932	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2505935	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2505939	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2505940	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2505942	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2505944	0.87[ASN][1000 genomes]
rs3805903	0.95[CHB][hapmap]
rs3805911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805913	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3805919	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3828753	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4256394	0.86[ASN][1000 genomes]
rs4706113	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs56706046	0.82[EUR][1000 genomes]
rs583426	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs590641	0.94[CHB][hapmap]
rs684251	0.95[CHB][hapmap]
rs684283	0.95[CHB][hapmap]
rs688867	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes]
rs6936226	1.00[YRI][hapmap]
rs6938280	0.87[ASN][1000 genomes]
rs742833	0.85[ASN][1000 genomes]
rs7741013	0.84[ASN][1000 genomes]
rs7745301	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7746917	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs806783	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs9294172	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9343974	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9343977	0.95[CHB][hapmap]
rs942381	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9448911	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][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	esv3398521	chr6:80816133-80818281	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80815200-80817400	Active TSS	Fetal Kidney	kidney
2	chr6:80815400-80817400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:80815600-80817000	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:80815600-80817000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:80815600-80817000	Active TSS	Right Atrium	heart
6	chr6:80815600-80817000	Active TSS	A549	lung
7	chr6:80815600-80817200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:80815600-80817200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:80815600-80817200	Active TSS	Brain Hippocampus Middle	brain
10	chr6:80815600-80817200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:80815600-80817200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:80815600-80817400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:80815600-80817400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:80815600-80817400	Active TSS	Fetal Intestine Large	intestine
15	chr6:80815600-80817400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:80815600-80817400	Active TSS	K562	blood
17	chr6:80815600-80817800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:80815600-80817800	Active TSS	Stomach Smooth Muscle	stomach
19	chr6:80815600-80819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80815800-80817000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:80815800-80817000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:80815800-80817000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:80815800-80817000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:80815800-80817000	Active TSS	Brain Germinal Matrix	brain
25	chr6:80815800-80817000	Active TSS	Colon Smooth Muscle	Colon
26	chr6:80815800-80817000	Active TSS	Ovary	ovary
27	chr6:80815800-80817000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr6:80815800-80817000	Active TSS	Psoas Muscle	Psoas
29	chr6:80815800-80817000	Active TSS	HSMMtube	muscle
30	chr6:80815800-80817000	Active TSS	NHEK	skin
31	chr6:80815800-80817000	Active TSS	Osteobl	bone
32	chr6:80815800-80817200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:80815800-80817200	Active TSS	Brain Anterior Caudate	brain
34	chr6:80815800-80817200	Active TSS	Brain Substantia Nigra	brain
35	chr6:80815800-80817200	Active TSS	Hela-S3	cervix
36	chr6:80815800-80817400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:80815800-80817400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr6:80815800-80817400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:80815800-80817400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:80815800-80817400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:80815800-80817400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:80815800-80817400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:80815800-80817400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr6:80815800-80817400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:80815800-80817400	Active TSS	Right Ventricle	heart
46	chr6:80815800-80817400	Active TSS	HMEC	breast
47	chr6:80815800-80817400	Active TSS	NHLF	lung
48	chr6:80815800-80817600	Active TSS	Aorta	Aorta
49	chr6:80815800-80817800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:80815800-80817800	Active TSS	HUES6 Cell Line	embryonic stem cell

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