Variant report

Variant	rs1200968
Chromosome Location	chr16:47696449-47696450
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	chr16:47687860..47689573-chr16:47695289..47697558,2	K562	blood:
2	chr16:47691613..47697230-chr16:47697697..47701033,5	K562	blood:

Variant related genes	Relation type
ENSG00000102893	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12445738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1585960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56257827	1.00[AMR][1000 genomes]
rs6598596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202866	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];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:115 , 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	chr16:47661400-47697800	Weak transcription	Stomach Mucosa	stomach
4	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:47671400-47698800	Weak transcription	Fetal Intestine Small	intestine
7	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
8	chr16:47678400-47697800	Weak transcription	Fetal Stomach	stomach
9	chr16:47678400-47699400	Weak transcription	Esophagus	oesophagus
10	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
11	chr16:47678400-47730800	Weak transcription	NH-A	brain
12	chr16:47678600-47733200	Weak transcription	NHLF	lung
13	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:47681800-47700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:47687400-47700400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:47688200-47697600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
22	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
24	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr16:47690200-47704200	Strong transcription	Adipose Nuclei	Adipose
26	chr16:47690400-47698800	Strong transcription	Primary T cells from cord blood	blood
27	chr16:47690400-47703800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:47691000-47698800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:47691600-47696600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:47691600-47696600	Strong transcription	Liver	Liver
31	chr16:47692200-47700200	Weak transcription	Lung	lung
32	chr16:47692200-47709000	Weak transcription	Pancreas	Pancrea
33	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
34	chr16:47693600-47698400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr16:47693600-47709400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:47694400-47696600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:47694400-47696800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:47694400-47702200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:47694400-47703600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr16:47694600-47696600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:47694600-47696600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr16:47694600-47696600	Strong transcription	Fetal Lung	lung
43	chr16:47694600-47697600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:47694600-47697600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:47694600-47697800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:47694600-47698200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:47694600-47705000	Strong transcription	Left Ventricle	heart
48	chr16:47694600-47705800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:47694800-47698000	Strong transcription	HUVEC	blood vessel
50	chr16:47695000-47697400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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