Variant report

Variant	rs536240208
Chromosome Location	chr22:32806708-32806709
allele	C/T
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	chr22:32806138-32806964	GM12878	blood:	n/a	n/a
2	FOS	chr22:32806554-32806745	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF7L2	chr22:32806505-32806761	MCF-7	breast:	n/a	chr22:32806615-32806624 chr22:32806611-32806625
4	FOS	chr22:32806463-32806754	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32806505..32810377-chr22:32871743..32874140,3	K562	blood:
2	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
3	chr22:32806637..32808324-chr22:32870497..32872790,2	MCF-7	breast:
4	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:
5	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 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	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
4	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
5	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
7	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:32804800-32807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:32804800-32807000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr22:32805000-32806800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:32805000-32806800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:32805000-32806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:32805000-32806800	Weak transcription	Aorta	Aorta
16	chr22:32805000-32806800	Weak transcription	Fetal Intestine Large	intestine
17	chr22:32805000-32806800	Weak transcription	Lung	lung
18	chr22:32805000-32806800	Weak transcription	HSMM	muscle
19	chr22:32805000-32806800	Weak transcription	NH-A	brain
20	chr22:32805000-32807000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:32805600-32806800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr22:32805600-32807000	Enhancers	Stomach Mucosa	stomach
23	chr22:32806000-32806800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:32806000-32806800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr22:32806000-32806800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:32806000-32806800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr22:32806000-32806800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:32806000-32806800	Enhancers	Right Ventricle	heart
29	chr22:32806000-32806800	Enhancers	Hela-S3	cervix
30	chr22:32806000-32807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:32806000-32807000	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:32806000-32807000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr22:32806000-32807000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:32806000-32807200	Enhancers	Pancreas	Pancrea
35	chr22:32806000-32807400	Enhancers	Spleen	Spleen
36	chr22:32806200-32806800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:32806200-32806800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr22:32806200-32806800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:32806200-32806800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:32806200-32806800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:32806200-32806800	Enhancers	Fetal Intestine Small	intestine
42	chr22:32806200-32806800	Enhancers	Fetal Thymus	thymus
43	chr22:32806200-32806800	Enhancers	Ovary	ovary
44	chr22:32806200-32806800	Enhancers	Right Atrium	heart
45	chr22:32806200-32806800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr22:32806200-32806800	Enhancers	HUVEC	blood vessel
47	chr22:32806200-32806800	Genic enhancers	K562	blood
48	chr22:32806200-32806800	Enhancers	NHEK	skin
49	chr22:32806200-32807000	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:32806200-32807000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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