Variant report

Variant	rs12332653
Chromosome Location	chr5:115221619-115221620
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115220382..115222331-chr5:115228507..115231029,2	K562	blood:
2	chr5:115175799..115178442-chr5:115221185..115223278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177879	Chromatin interaction
ENSG00000145782	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10039749	0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10050876	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10075784	0.80[ASN][1000 genomes]
rs1058600	0.80[ASN][1000 genomes]
rs10751460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241336	0.98[ASN][1000 genomes]
rs11241337	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12188972	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs12513891	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12514553	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12517882	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12519850	0.94[ASN][1000 genomes]
rs12520442	0.94[ASN][1000 genomes]
rs12523122	0.94[ASN][1000 genomes]
rs13157716	0.98[ASN][1000 genomes]
rs13179199	0.96[ASN][1000 genomes]
rs13361489	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs152368	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs152369	0.95[ASN][1000 genomes]
rs152397	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.95[ASN][1000 genomes]
rs152398	0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs171809	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2080902	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26529	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs26536	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs26537	0.82[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs26538	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs35179959	0.80[ASN][1000 genomes]
rs35238578	0.95[ASN][1000 genomes]
rs35501287	0.97[ASN][1000 genomes]
rs3733902	0.81[CHB][hapmap]
rs3756555	0.82[CHB][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes]
rs3797564	0.86[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3797565	0.93[ASN][1000 genomes]
rs3797566	0.81[CHB][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3797567	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3797568	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797569	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs41332950	0.90[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs4143542	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs58463583	0.84[ASN][1000 genomes]
rs59750231	0.98[ASN][1000 genomes]
rs61381571	0.97[ASN][1000 genomes]
rs6879485	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880372	0.92[ASN][1000 genomes]
rs71581217	0.94[ASN][1000 genomes]
rs7707539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7708164	0.80[ASN][1000 genomes]
rs7713314	0.97[ASN][1000 genomes]
rs7723291	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3401617	chr5:115205732-115238678	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3368162	chr5:115205767-115230833	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1021968	chr5:115213162-115426468	Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
3	chr5:115193200-115239000	Weak transcription	Gastric	stomach
4	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
6	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
7	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
8	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
9	chr5:115207200-115222600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:115207600-115233600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
16	chr5:115207800-115227400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:115208000-115229200	Weak transcription	Primary B cells from cord blood	blood
20	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:115208200-115236000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:115208600-115235600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:115209200-115234200	Weak transcription	HSMM	muscle
24	chr5:115209400-115231200	Weak transcription	NHDF-Ad	bronchial
25	chr5:115209400-115232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:115209800-115234000	Weak transcription	HUVEC	blood vessel
27	chr5:115212000-115225200	Weak transcription	Brain Angular Gyrus	brain
28	chr5:115212000-115236000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:115212600-115238200	Weak transcription	Dnd41	blood
30	chr5:115217800-115234000	Weak transcription	GM12878-XiMat	blood
31	chr5:115218400-115223600	Weak transcription	Fetal Brain Female	brain
32	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
33	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:115219000-115227600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:115219200-115222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:115219200-115222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:115219200-115224600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:115219200-115231000	Weak transcription	NH-A	brain
40	chr5:115219200-115233600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:115219200-115234000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
43	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:115219400-115222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:115219400-115222200	Weak transcription	Lung	lung
46	chr5:115219400-115223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:115219400-115224000	Weak transcription	Ovary	ovary
48	chr5:115219400-115224600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:115219400-115230200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:115219400-115231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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