Variant report

Variant	rs63482
Chromosome Location	chr3:101045907-101045908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101040010..101042925-chr3:101044427..101046951,2	K562	blood:
2	chr3:101044050..101046352-chr3:101047857..101049368,2	K562	blood:
3	chr3:101043939..101046244-chr3:101049634..101052193,2	K562	blood:
4	chr3:101040613..101042326-chr3:101043316..101046300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138468	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11929578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1426386	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464361	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2176887	0.82[EUR][1000 genomes]
rs2433032	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2449824	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2460721	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553414	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553420	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553421	0.81[EUR][1000 genomes]
rs2553422	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553428	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2682387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2682389	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3846092	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs472751	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs485037	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs485793	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs488679	0.86[LWK][hapmap]
rs503252	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs503669	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs504482	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524261	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs534119	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs535779	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551395	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs554030	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs556820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs565914	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs566292	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61379928	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6779775	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6791803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6809436	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs72942230	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72942264	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72948053	0.86[EUR][1000 genomes]
rs7613046	0.82[AFR][1000 genomes]
rs7618600	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7638284	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7648141	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs770968	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9917699	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101030200-101052800	Weak transcription	Fetal Stomach	stomach
2	chr3:101030400-101062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:101030800-101065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:101030800-101096400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:101032200-101055600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:101037200-101046000	Weak transcription	Left Ventricle	heart
7	chr3:101038600-101101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:101038800-101048000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:101038800-101089800	Weak transcription	Pancreas	Pancrea
10	chr3:101039400-101048000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:101039600-101046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:101039800-101106600	Weak transcription	Thymus	Thymus
13	chr3:101040400-101046000	Weak transcription	HSMM	muscle
14	chr3:101040400-101048200	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:101040400-101070800	Weak transcription	NHDF-Ad	bronchial
16	chr3:101040600-101046000	Weak transcription	Fetal Intestine Large	intestine
17	chr3:101040600-101086800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:101040800-101046000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:101040800-101056000	Weak transcription	Lung	lung
20	chr3:101040800-101076000	Weak transcription	Esophagus	oesophagus
21	chr3:101040800-101090000	Weak transcription	Brain Angular Gyrus	brain
22	chr3:101042000-101069200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:101042200-101070800	Weak transcription	Osteobl	bone
24	chr3:101042600-101046000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:101042600-101048200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:101042800-101046000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:101042800-101046400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:101042800-101061800	Weak transcription	Small Intestine	intestine
29	chr3:101042800-101089600	Weak transcription	NH-A	brain
30	chr3:101043000-101059800	Weak transcription	Fetal Kidney	kidney
31	chr3:101043200-101076000	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:101043200-101105000	Weak transcription	Brain Anterior Caudate	brain
33	chr3:101043400-101046200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:101043400-101047000	Strong transcription	Liver	Liver
35	chr3:101043600-101046200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:101043800-101051000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:101043800-101052400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:101043800-101096600	Weak transcription	Brain Substantia Nigra	brain
39	chr3:101044000-101046200	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:101044000-101047000	Strong transcription	Placenta	Placenta
41	chr3:101044000-101047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:101044000-101049800	Strong transcription	Primary B cells from cord blood	blood
43	chr3:101044000-101051000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:101044000-101052600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:101044000-101055400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:101044000-101059200	Weak transcription	HSMMtube	muscle
47	chr3:101044000-101063200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:101044200-101046400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:101044200-101050200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:101044200-101050400	Strong transcription	Primary T cells fromperipheralblood	blood

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