Variant report

Variant	rs571330743
Chromosome Location	chr22:29998711-29998712
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29998691-29999990	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr22:29998697-30000239	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
2	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:

Variant related genes	Relation type
NF2	TF binding region
ENSG00000184117	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv817417	chr22:29998464-30035142	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29977600-29998800	Weak transcription	Right Atrium	heart
2	chr22:29985200-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:29985200-29999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:29990200-29999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29992800-29999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:29993400-29999000	Weak transcription	HSMMtube	muscle
7	chr22:29993600-29999000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:29995000-29999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29995000-29999000	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:29995000-29999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29995000-29999000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:29995400-29999000	Weak transcription	Fetal Intestine Large	intestine
13	chr22:29997000-29999000	Weak transcription	Placenta	Placenta
14	chr22:29997600-29999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:29997600-29999000	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:29997800-29998800	Enhancers	A549	lung
17	chr22:29997800-29999000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:29997800-29999000	Enhancers	Fetal Muscle Leg	muscle
19	chr22:29997800-29999000	Weak transcription	K562	blood
20	chr22:29998000-29999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:29998000-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29998000-29999000	Weak transcription	Fetal Intestine Small	intestine
23	chr22:29998000-29999000	Weak transcription	NH-A	brain
24	chr22:29998000-29999000	Weak transcription	NHEK	skin
25	chr22:29998200-29998800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:29998400-29999000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr22:29998400-30000200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr22:29998400-30001200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:29998600-29998800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr22:29998600-29998800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:29998600-29998800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:29998600-29998800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:29998600-29998800	Weak transcription	Brain Anterior Caudate	brain
34	chr22:29998600-29998800	Flanking Active TSS	Dnd41	blood
35	chr22:29998600-29998800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:29998600-29999000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr22:29998600-29999000	Enhancers	Primary B cells from peripheral blood	blood
38	chr22:29998600-29999000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr22:29998600-29999000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr22:29998600-29999000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:29998600-29999000	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:29998600-29999000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr22:29998600-29999000	Enhancers	Spleen	Spleen
44	chr22:29998600-30000000	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr22:29998600-30000400	Active TSS	Brain Cingulate Gyrus	brain
46	chr22:29998600-30000600	Active TSS	Hela-S3	cervix
47	chr22:29998600-30000800	Active TSS	Colonic Mucosa	Colon
48	chr22:29998600-30001400	Active TSS	GM12878-XiMat	blood
49	chr22:29998600-30002000	Active TSS	HSMM	muscle

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