Variant report

Variant	rs41427947
Chromosome Location	chr16:47709597-47709598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12719742	1.00[EUR][1000 genomes]
rs12920938	1.00[EUR][1000 genomes]
rs1420669	1.00[EUR][1000 genomes]
rs2098420	1.00[EUR][1000 genomes]
rs2342693	1.00[EUR][1000 genomes]
rs41438546	1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55915748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56026849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60269785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61075689	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61351980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187698	1.00[EUR][1000 genomes]
rs74016206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016219	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053095	1.00[EUR][1000 genomes]
rs8061702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
2	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
5	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
6	chr16:47678400-47730800	Weak transcription	NH-A	brain
7	chr16:47678600-47733200	Weak transcription	NHLF	lung
8	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
14	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
16	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
18	chr16:47695200-47710600	Weak transcription	Brain Angular Gyrus	brain
19	chr16:47695400-47710200	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:47695800-47710400	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:47695800-47727200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr16:47695800-47735000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:47696000-47709600	Weak transcription	HSMM	muscle
24	chr16:47696000-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:47696000-47710400	Weak transcription	Brain Substantia Nigra	brain
26	chr16:47696000-47727800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:47696000-47730200	Weak transcription	NHEK	skin
28	chr16:47696000-47737800	Weak transcription	HMEC	breast
29	chr16:47696200-47717000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:47696400-47710200	Weak transcription	Osteobl	bone
31	chr16:47696400-47710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:47696400-47710600	Weak transcription	K562	blood
33	chr16:47696400-47710800	Weak transcription	Fetal Kidney	kidney
34	chr16:47696400-47717200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:47696400-47723000	Weak transcription	Brain Anterior Caudate	brain
36	chr16:47696400-47723200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:47696600-47710800	Weak transcription	Fetal Lung	lung
38	chr16:47696600-47717200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:47697600-47710800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:47698000-47710600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:47699000-47728600	Weak transcription	HUVEC	blood vessel
42	chr16:47699200-47710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr16:47699400-47735000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr16:47700800-47731400	Weak transcription	Stomach Mucosa	stomach
45	chr16:47702400-47723400	Weak transcription	A549	lung
46	chr16:47702600-47710800	Weak transcription	HSMMtube	muscle
47	chr16:47702600-47711400	Weak transcription	Fetal Intestine Small	intestine
48	chr16:47703000-47710800	Weak transcription	Brain Germinal Matrix	brain
49	chr16:47703400-47710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:47706200-47711600	Strong transcription	Primary B cells from cord blood	blood

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