Variant report

Variant	rs5997649
Chromosome Location	chr22:30841267-30841268
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30781821..30783349-chr22:30839370..30842109,2	K562	blood:
2	chr22:30840134..30842525-chr22:30862585..30865175,2	K562	blood:
3	chr22:30841133..30842914-chr22:30970572..30973414,2	MCF-7	breast:
4	chr22:30827529..30829177-chr22:30839737..30842354,2	K562	blood:
5	chr22:30839710..30841304-chr22:30897619..30899951,2	K562	blood:
6	chr22:30839545..30842321-chr22:30849222..30852849,3	K562	blood:
7	chr22:30751221..30752960-chr22:30840327..30842364,3	K562	blood:
8	chr22:30839961..30842016-chr22:30851349..30853503,2	K562	blood:
9	chr22:30818699..30820979-chr22:30839778..30841389,2	K562	blood:
10	chr22:30840913..30841844-chr22:30952173..30953003,5	MCF-7	breast:
11	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:
12	chr22:30765777..30768205-chr22:30839224..30841289,2	K562	blood:
13	chr22:30840899..30842135-chr22:30881081..30882272,7	MCF-7	breast:
14	chr22:30840880..30841579-chr22:31001151..31002176,4	MCF-7	breast:
15	chr22:30840578..30841753-chr22:30952118..30952876,3	MCF-7	breast:
16	chr22:30840805..30841805-chr22:30881139..30882175,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10427765	1.00[AMR][1000 genomes]
rs12158119	1.00[AMR][1000 genomes]
rs12159979	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988763	1.00[AMR][1000 genomes]
rs34765878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994294	0.94[YRI][hapmap]
rs5997621	0.93[YRI][hapmap]
rs5997635	1.00[AMR][1000 genomes]
rs5997644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394240	1.00[AMR][1000 genomes]
rs73881452	1.00[AMR][1000 genomes]
rs73881454	1.00[AMR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
3	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
4	chr22:30839400-30841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:30839400-30841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:30839600-30842400	Weak transcription	Esophagus	oesophagus
7	chr22:30840400-30841800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr22:30840400-30842600	Enhancers	Ovary	ovary
9	chr22:30840600-30841800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30840600-30841800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30840600-30841800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:30840600-30842200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:30840600-30843000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:30840800-30841400	Flanking Active TSS	K562	blood
15	chr22:30840800-30841600	Enhancers	GM12878-XiMat	blood
16	chr22:30840800-30841800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:30840800-30841800	Enhancers	A549	lung
18	chr22:30840800-30841800	Enhancers	HMEC	breast
19	chr22:30840800-30841800	Enhancers	HUVEC	blood vessel
20	chr22:30841000-30841400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:30841000-30841400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:30841000-30841400	Enhancers	Fetal Muscle Leg	muscle
23	chr22:30841000-30841400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr22:30841000-30841400	Enhancers	Dnd41	blood
25	chr22:30841000-30841400	Flanking Active TSS	Hela-S3	cervix
26	chr22:30841000-30841600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30841000-30841600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr22:30841000-30841600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:30841000-30841800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr22:30841000-30841800	Enhancers	Pancreas	Pancrea
31	chr22:30841000-30841800	Enhancers	HSMMtube	muscle
32	chr22:30841000-30842000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:30841000-30842000	Enhancers	HepG2	liver
34	chr22:30841000-30842000	Enhancers	NH-A	brain
35	chr22:30841000-30842000	Enhancers	NHEK	skin
36	chr22:30841000-30842000	Enhancers	Osteobl	bone
37	chr22:30841000-30842200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:30841000-30842200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:30841000-30842200	Enhancers	NHDF-Ad	bronchial
40	chr22:30841000-30842400	Enhancers	HSMM	muscle
41	chr22:30841000-30842400	Enhancers	NHLF	lung
42	chr22:30841000-30842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30841000-30842600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:30841000-30842600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr22:30841000-30842600	Enhancers	Liver	Liver
46	chr22:30841200-30841400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr22:30841200-30841400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:30841200-30841400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:30841200-30841400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:30841200-30841400	Enhancers	Left Ventricle	heart

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