Variant report

Variant	rs9922531
Chromosome Location	chr16:47697980-47697981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47691613..47697230-chr16:47697697..47701033,5	K562	blood:

Variant related genes	Relation type
ENSG00000102893	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs13329876	1.00[AFR][1000 genomes]
rs13331276	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13332822	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13334954	1.00[AFR][1000 genomes]
rs13335589	1.00[AFR][1000 genomes]
rs13336440	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28404995	1.00[AFR][1000 genomes]
rs28405972	1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28446873	1.00[AFR][1000 genomes]
rs28474983	1.00[AFR][1000 genomes]
rs28533453	1.00[AFR][1000 genomes]
rs28663455	1.00[AFR][1000 genomes]
rs28674891	1.00[AFR][1000 genomes]
rs28691569	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921060	1.00[AFR][1000 genomes]
rs9921690	1.00[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922863	1.00[AFR][1000 genomes]
rs9922954	1.00[AFR][1000 genomes]
rs9924052	1.00[AFR][1000 genomes]
rs9924144	1.00[AFR][1000 genomes]
rs9924420	1.00[AFR][1000 genomes]
rs9925039	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925483	1.00[AFR][1000 genomes]
rs9925499	1.00[AFR][1000 genomes]
rs9928023	1.00[AFR][1000 genomes]
rs9928782	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9930919	1.00[AFR][1000 genomes]
rs9931999	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9932380	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9934849	1.00[AFR][1000 genomes]
rs9935072	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936168	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936755	1.00[AFR][1000 genomes]
rs9937013	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9938504	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940111	1.00[AFR][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	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:47671400-47698800	Weak transcription	Fetal Intestine Small	intestine
6	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
7	chr16:47678400-47699400	Weak transcription	Esophagus	oesophagus
8	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
9	chr16:47678400-47730800	Weak transcription	NH-A	brain
10	chr16:47678600-47733200	Weak transcription	NHLF	lung
11	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr16:47681800-47700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:47687400-47700400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
19	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
21	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:47690200-47704200	Strong transcription	Adipose Nuclei	Adipose
23	chr16:47690400-47698800	Strong transcription	Primary T cells from cord blood	blood
24	chr16:47690400-47703800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:47691000-47698800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:47692200-47700200	Weak transcription	Lung	lung
27	chr16:47692200-47709000	Weak transcription	Pancreas	Pancrea
28	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
29	chr16:47693600-47698400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr16:47693600-47709400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:47694400-47702200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:47694400-47703600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:47694600-47698200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:47694600-47705000	Strong transcription	Left Ventricle	heart
35	chr16:47694600-47705800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:47694800-47698000	Strong transcription	HUVEC	blood vessel
37	chr16:47695200-47709000	Weak transcription	Right Ventricle	heart
38	chr16:47695200-47709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:47695200-47709400	Weak transcription	Psoas Muscle	Psoas
40	chr16:47695200-47710600	Weak transcription	Brain Angular Gyrus	brain
41	chr16:47695400-47700200	Weak transcription	Aorta	Aorta
42	chr16:47695400-47708600	Weak transcription	Gastric	stomach
43	chr16:47695400-47710200	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:47695600-47702200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:47695600-47709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:47695800-47709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:47695800-47709200	Weak transcription	Fetal Brain Female	brain
48	chr16:47695800-47709400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:47695800-47710400	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:47695800-47727200	Weak transcription	Muscle Satellite Cultured Cells	--

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