Variant report

Variant	rs5997486
Chromosome Location	chr22:29902473-29902474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29900167..29903084-chr22:29905527..29908118,2	K562	blood:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56344321	0.88[AFR][1000 genomes]
rs60759347	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
2	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:29886000-29903400	Weak transcription	Gastric	stomach
8	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:29891000-29902600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:29891000-29903600	Weak transcription	Spleen	Spleen
11	chr22:29891000-29904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:29891200-29902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29891200-29902600	Weak transcription	Fetal Lung	lung
14	chr22:29891200-29903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:29891400-29903000	Weak transcription	Aorta	Aorta
16	chr22:29891600-29902800	Weak transcription	HUVEC	blood vessel
17	chr22:29891600-29907400	Weak transcription	Fetal Brain Male	brain
18	chr22:29891800-29903600	Weak transcription	Small Intestine	intestine
19	chr22:29894200-29902600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
21	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29896800-29902600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29896800-29902600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:29896800-29904000	Weak transcription	HepG2	liver
25	chr22:29896800-29904000	Weak transcription	HMEC	breast
26	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:29898000-29902600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:29898400-29902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:29898400-29911400	Weak transcription	Fetal Kidney	kidney
31	chr22:29899400-29903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29899800-29909600	Strong transcription	Primary T cells from cord blood	blood
33	chr22:29900200-29902600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:29900200-29902600	Weak transcription	HSMMtube	muscle
35	chr22:29900200-29902800	Weak transcription	Ovary	ovary
36	chr22:29900200-29902800	Weak transcription	NHDF-Ad	bronchial
37	chr22:29900200-29903000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:29900200-29903600	Weak transcription	Brain Angular Gyrus	brain
39	chr22:29900200-29904000	Weak transcription	Psoas Muscle	Psoas
40	chr22:29900400-29902600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:29900400-29902600	Weak transcription	Adipose Nuclei	Adipose
42	chr22:29900400-29902600	Weak transcription	NH-A	brain
43	chr22:29900400-29902800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:29900400-29903400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29900400-29903800	Weak transcription	K562	blood
46	chr22:29900400-29904600	Strong transcription	A549	lung
47	chr22:29900400-29913200	Weak transcription	Fetal Heart	heart
48	chr22:29900400-29929000	Strong transcription	Fetal Stomach	stomach
49	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr22:29900600-29918000	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links