Variant report

Variant	rs57983344
Chromosome Location	chr22:29662236-29662237
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	chr22:29661169-29667225	GM12878	blood:	n/a	n/a
2	WRNIP1	chr22:29662167-29666681	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29661598-29662245	K562	blood:	n/a	n/a
4	POLR2A	chr22:29661184-29664672	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29661114-29667320	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr22:29661756-29662257	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:29661584-29667287	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29661955..29666922-chr22:29700529..29704114,10	K562	blood:
2	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:

Variant related genes	Relation type
RHBDD3	TF binding region
EWSR1	TF binding region
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60927939	1.00[AMR][1000 genomes]
rs73884707	1.00[AMR][1000 genomes]
rs73884711	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
2	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
3	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
4	chr22:29654200-29662600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:29654600-29662400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:29654600-29662400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:29654600-29662600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr22:29654800-29662400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:29655600-29662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:29658200-29662400	Weak transcription	Right Atrium	heart
11	chr22:29658400-29662800	Weak transcription	Primary B cells from cord blood	blood
12	chr22:29658600-29662600	Weak transcription	Psoas Muscle	Psoas
13	chr22:29659600-29662400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr22:29659600-29662400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:29659600-29662400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:29659800-29662400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:29659800-29662400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:29659800-29662400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:29659800-29662400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:29660000-29662400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:29660200-29662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:29660200-29662400	Strong transcription	NHEK	skin
23	chr22:29660200-29662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr22:29660600-29662400	Weak transcription	Fetal Kidney	kidney
25	chr22:29661000-29662400	Weak transcription	HSMM	muscle
26	chr22:29661400-29662400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:29661400-29662600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29661400-29662600	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr22:29661400-29662800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:29661600-29662400	Weak transcription	Liver	Liver
31	chr22:29661600-29662600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr22:29661600-29662600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:29661600-29662600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:29661600-29662600	Genic enhancers	NHLF	lung
35	chr22:29661600-29662800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:29661800-29662400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:29661800-29662400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr22:29661800-29662400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29661800-29662400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:29661800-29662600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:29661800-29662800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29661800-29662800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:29661800-29662800	Enhancers	Pancreas	Pancrea
44	chr22:29661800-29663200	Enhancers	Fetal Heart	heart
45	chr22:29661800-29663400	Enhancers	Spleen	Spleen
46	chr22:29662000-29662400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:29662000-29662400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr22:29662000-29662400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:29662000-29662400	Weak transcription	Primary T cells from cord blood	blood
50	chr22:29662000-29662400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links