Variant report

Variant	rs9625773
Chromosome Location	chr22:29766742-29766743
allele	A/C
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	RAD21	chr22:29766517-29766782	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr22:29766541-29766878	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:29766680-29766830	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29760830..29763484-chr22:29765100..29766942,2	K562	blood:

Variant related genes	Relation type
AP1B1	TF binding region
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12166223	1.00[EUR][1000 genomes]
rs12167481	1.00[EUR][1000 genomes]
rs12169052	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12170282	1.00[EUR][1000 genomes]
rs28425720	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5742311	1.00[EUR][1000 genomes]
rs73397027	1.00[EUR][1000 genomes]
rs73397030	1.00[EUR][1000 genomes]
rs73397032	1.00[EUR][1000 genomes]
rs73399041	1.00[EUR][1000 genomes]
rs73399052	1.00[EUR][1000 genomes]
rs73399059	1.00[EUR][1000 genomes]
rs9620871	1.00[EUR][1000 genomes]
rs9620872	1.00[EUR][1000 genomes]
rs9620884	1.00[EUR][1000 genomes]
rs9625764	1.00[EUR][1000 genomes]
rs9625784	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9625785	1.00[EUR][1000 genomes]

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	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	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
3	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
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29750600-29766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29754600-29770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29755000-29772200	Weak transcription	Aorta	Aorta
6	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29755200-29773800	Weak transcription	Stomach Mucosa	stomach
8	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
9	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
11	chr22:29755600-29771400	Weak transcription	Psoas Muscle	Psoas
12	chr22:29755600-29778600	Weak transcription	Fetal Lung	lung
13	chr22:29755800-29776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:29756000-29769000	Weak transcription	Gastric	stomach
15	chr22:29756000-29771400	Weak transcription	Esophagus	oesophagus
16	chr22:29756000-29771400	Weak transcription	HMEC	breast
17	chr22:29756000-29771800	Weak transcription	NHLF	lung
18	chr22:29756000-29772200	Weak transcription	Right Atrium	heart
19	chr22:29756000-29776200	Weak transcription	Small Intestine	intestine
20	chr22:29756000-29779800	Weak transcription	Brain Germinal Matrix	brain
21	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
22	chr22:29756000-29783800	Weak transcription	Ovary	ovary
23	chr22:29756200-29779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr22:29756400-29770400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:29756400-29772200	Weak transcription	Fetal Heart	heart
26	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr22:29758200-29771800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:29758200-29777000	Weak transcription	Colonic Mucosa	Colon
29	chr22:29759400-29767600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29761600-29768600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:29762600-29771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:29762800-29767000	Weak transcription	Left Ventricle	heart
33	chr22:29762800-29768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:29762800-29770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29762800-29771800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:29762800-29777200	Weak transcription	Fetal Brain Female	brain
37	chr22:29763200-29766800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:29763600-29767000	Enhancers	Brain Hippocampus Middle	brain
39	chr22:29763800-29767200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:29763800-29767200	Enhancers	Primary hematopoietic stem cells	blood
41	chr22:29764000-29767400	Enhancers	Brain Substantia Nigra	brain
42	chr22:29764000-29769200	Strong transcription	Fetal Intestine Small	intestine
43	chr22:29764200-29771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:29764400-29767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr22:29764400-29767400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:29764400-29767400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr22:29764400-29767400	Strong transcription	NHEK	skin
48	chr22:29764600-29767200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:29764600-29767400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr22:29764600-29767400	Strong transcription	Fetal Intestine Large	intestine

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