Variant report

Variant	rs553125122
Chromosome Location	chr22:29756312-29756313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
2	chr22:29701853..29704489-chr22:29754340..29756996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv966099	chr22:29755726-29762172	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	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
6	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
2	chr22:29722000-29759200	Strong transcription	Dnd41	blood
3	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
5	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:29739000-29762800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr22:29739800-29757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:29740200-29756400	Strong transcription	Fetal Thymus	thymus
17	chr22:29740600-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:29740800-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
20	chr22:29741800-29757200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr22:29741800-29760200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29742000-29757000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr22:29744000-29756600	Strong transcription	Fetal Brain Female	brain
24	chr22:29745000-29765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:29745600-29763400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:29750600-29765200	Weak transcription	NHDF-Ad	bronchial
27	chr22:29750600-29766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr22:29750800-29760000	Weak transcription	K562	blood
29	chr22:29750800-29764400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:29752000-29756400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:29754000-29756400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:29754000-29756600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:29754000-29757000	Strong transcription	GM12878-XiMat	blood
35	chr22:29754400-29756400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr22:29754400-29756400	Strong transcription	Placenta	Placenta
37	chr22:29754600-29770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:29754800-29759600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:29754800-29765200	Weak transcription	HSMM	muscle
40	chr22:29755000-29756400	Enhancers	Fetal Heart	heart
41	chr22:29755000-29759400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:29755000-29765200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29755000-29772200	Weak transcription	Aorta	Aorta
44	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:29755200-29765000	Weak transcription	NH-A	brain
46	chr22:29755200-29773800	Weak transcription	Stomach Mucosa	stomach
47	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
48	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:29755400-29756600	Enhancers	Liver	Liver
50	chr22:29755400-29756600	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links