Variant report

Variant	rs9931243
Chromosome Location	chr16:69913441-69913442
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	chr16:69907961..69910613-chr16:69913209..69915060,2	K562	blood:
2	chr16:69906020..69907607-chr16:69913429..69915841,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13329778	1.00[AFR][1000 genomes]
rs13329812	1.00[AFR][1000 genomes]
rs13332544	1.00[AFR][1000 genomes]
rs13338911	1.00[AFR][1000 genomes]
rs28429826	1.00[AFR][1000 genomes]
rs28576892	1.00[AFR][1000 genomes]
rs28651196	1.00[AFR][1000 genomes]
rs28673794	1.00[AFR][1000 genomes]
rs28756357	1.00[AFR][1000 genomes]
rs28867427	1.00[AFR][1000 genomes]
rs9924630	1.00[AFR][1000 genomes]
rs9928560	1.00[AFR][1000 genomes]
rs9935973	1.00[AFR][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69890400-69923400	Weak transcription	HUVEC	blood vessel
2	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
3	chr16:69893200-69923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69900000-69914600	Weak transcription	NHLF	lung
5	chr16:69900200-69914600	Weak transcription	NH-A	brain
6	chr16:69900800-69915600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:69901000-69915200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr16:69901000-69915200	Strong transcription	Primary T cells from cord blood	blood
10	chr16:69901000-69918800	Strong transcription	Fetal Intestine Large	intestine
11	chr16:69901800-69922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:69902600-69914400	Weak transcription	HSMM	muscle
14	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:69903800-69917600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:69904800-69915000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:69905000-69915000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:69905200-69917400	Weak transcription	NHEK	skin
20	chr16:69905600-69915400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:69906800-69923000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:69907000-69914400	Weak transcription	NHDF-Ad	bronchial
23	chr16:69907200-69922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:69907200-69923600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:69907400-69923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:69907400-69923800	Weak transcription	HMEC	breast
27	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
28	chr16:69907800-69916400	Weak transcription	Esophagus	oesophagus
29	chr16:69908000-69924200	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
31	chr16:69908400-69914600	Weak transcription	Pancreas	Pancrea
32	chr16:69908400-69919600	Weak transcription	Gastric	stomach
33	chr16:69908400-69921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:69908600-69913800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:69909000-69922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr16:69910800-69914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:69911000-69915800	Weak transcription	Stomach Mucosa	stomach
39	chr16:69911000-69923000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:69911200-69913600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:69911200-69914400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:69911200-69914400	Weak transcription	Aorta	Aorta
43	chr16:69911200-69914400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:69911200-69915400	Strong transcription	Liver	Liver
45	chr16:69911200-69917800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr16:69911200-69922000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr16:69911200-69922000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:69911200-69922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:69911200-69923000	Weak transcription	Fetal Lung	lung
50	chr16:69911400-69914200	Weak transcription	Brain Hippocampus Middle	brain

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