Variant report

Variant	rs386430
Chromosome Location	chr16:12078177-12078178
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12073884..12075657-chr16:12076188..12078702,2	MCF-7	breast:
2	chr16:12071974..12074044-chr16:12076209..12078195,2	K562	blood:
3	chr16:12075764..12078196-chr16:12078703..12080863,2	K562	blood:
4	chr16:12077520..12080777-chr16:12082061..12084894,3	MCF-7	breast:
5	chr16:12077645..12079878-chr16:12089363..12091808,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs119090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12922317	0.88[CHB][hapmap]
rs28512322	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs365529	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs370374	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs374146	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs375223	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs381584	0.80[YRI][hapmap]
rs383972	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851005	0.82[CHB][hapmap]
rs393313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs393630	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs398700	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs399260	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];0.98[ASN][1000 genomes]
rs404827	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs404854	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs428508	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431580	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs434455	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448756	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7189138	0.93[YRI][hapmap]
rs8043644	0.94[CHB][hapmap]
rs8061496	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071600-12083200	Weak transcription	Left Ventricle	heart
3	chr16:12071800-12079400	Weak transcription	Lung	lung
4	chr16:12071800-12079800	Weak transcription	Aorta	Aorta
5	chr16:12071800-12083200	Weak transcription	Spleen	Spleen
6	chr16:12071800-12088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:12072000-12086200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:12072000-12087200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:12072000-12088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr16:12072000-12093600	Weak transcription	Fetal Stomach	stomach
12	chr16:12072200-12084600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:12072200-12087400	Weak transcription	Fetal Thymus	thymus
14	chr16:12072200-12088200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:12072200-12088200	Weak transcription	Right Ventricle	heart
16	chr16:12072200-12093800	Weak transcription	Thymus	Thymus
17	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:12072400-12080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:12072400-12082400	Weak transcription	Placenta	Placenta
21	chr16:12072400-12083200	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12072400-12086200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:12072400-12086200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:12072400-12087200	Weak transcription	Primary T cells from cord blood	blood
25	chr16:12072400-12096400	Weak transcription	Ovary	ovary
26	chr16:12072400-12104400	Weak transcription	NHLF	lung
27	chr16:12072600-12082000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:12072600-12082400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:12072600-12086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:12072600-12094000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:12072600-12094000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:12074600-12088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:12075400-12078200	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr16:12076200-12083000	Weak transcription	GM12878-XiMat	blood
37	chr16:12076200-12083400	Weak transcription	Fetal Kidney	kidney
38	chr16:12077200-12079200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr16:12077400-12078800	Strong transcription	Primary B cells from cord blood	blood
40	chr16:12077600-12078400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12078000-12078800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:12078000-12082800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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