Variant report

Variant	rs16987119
Chromosome Location	chr22:29723104-29723105
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29701505..29704721-chr22:29721557..29726932,5	MCF-7	breast:
2	chr22:29715103..29718261-chr22:29720462..29723829,3	MCF-7	breast:
3	chr22:29708019..29709690-chr22:29721356..29724944,3	MCF-7	breast:
4	chr22:29661279..29664033-chr22:29722764..29724470,2	MCF-7	breast:
5	chr22:29715357..29719957-chr22:29720911..29723653,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-2	chr22:29722775-29723294	NONHSAT084697

No data

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16987345	0.80[AFR][1000 genomes]
rs16987365	0.80[AFR][1000 genomes]
rs16987431	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 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	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29718400-29724200	Weak transcription	Ovary	ovary
4	chr22:29718600-29724000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:29719000-29724000	Weak transcription	NHEK	skin
6	chr22:29719200-29724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:29719200-29725400	Weak transcription	Primary B cells from cord blood	blood
8	chr22:29719400-29730600	Weak transcription	HepG2	liver
9	chr22:29719600-29730800	Weak transcription	HMEC	breast
10	chr22:29719800-29723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:29719800-29724000	Weak transcription	HSMMtube	muscle
12	chr22:29720200-29726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:29720400-29723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:29720600-29723600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:29720600-29725800	Weak transcription	Small Intestine	intestine
16	chr22:29720600-29726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29720600-29732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29720600-29740000	Weak transcription	Fetal Brain Male	brain
19	chr22:29721000-29723800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:29721000-29725000	Weak transcription	NH-A	brain
21	chr22:29721200-29723800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:29721200-29726800	Weak transcription	Right Atrium	heart
23	chr22:29721200-29732000	Weak transcription	K562	blood
24	chr22:29721400-29724600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:29721400-29727000	Strong transcription	Placenta	Placenta
26	chr22:29721400-29738200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:29721400-29746800	Strong transcription	Fetal Intestine Small	intestine
28	chr22:29721600-29725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29721800-29724200	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:29721800-29726000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:29721800-29728200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr22:29721800-29734400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:29721800-29739600	Strong transcription	Colonic Mucosa	Colon
34	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
35	chr22:29722000-29723600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:29722000-29723800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr22:29722000-29725400	Strong transcription	Fetal Stomach	stomach
38	chr22:29722000-29726400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:29722000-29727200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr22:29722000-29732400	Strong transcription	Gastric	stomach
41	chr22:29722000-29732800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:29722000-29739200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:29722000-29739800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:29722000-29747000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:29722000-29759200	Strong transcription	Dnd41	blood
46	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:29722200-29723200	Genic enhancers	Brain Anterior Caudate	brain
48	chr22:29722200-29723600	Genic enhancers	Spleen	Spleen
49	chr22:29722200-29724200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:29722200-29724600	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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