Variant report

Variant	rs572023217
Chromosome Location	chr22:30789272-30789273
allele	A/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	ESR1	chr22:30788884-30789398	T-47D	breast:	n/a	n/a
2	PAX5	chr22:30788853-30789274	GM12878	blood:	n/a	chr22:30789081-30789099
3	ESR1	chr22:30788946-30789347	T-47D	breast:	n/a	n/a
4	ESR1	chr22:30788954-30789301	T-47D	breast:	n/a	n/a
5	ESR1	chr22:30788905-30789334	T-47D	breast:	n/a	n/a
6	POLR2A	chr22:30789147-30789434	K562	blood:	n/a	n/a
7	PAX5	chr22:30788744-30789306	GM12878	blood:	n/a	chr22:30788816-30788825 chr22:30789081-30789099
8	WRNIP1	chr22:30789258-30789334	GM12878	blood:	n/a	n/a
9	EBF1	chr22:30789041-30789341	GM12878	blood:	n/a	n/a
10	NR2F2	chr22:30788937-30789486	MCF-7	breast:	n/a	n/a
11	ESR1	chr22:30788932-30789419	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30788497..30790917-chr22:30792227..30795810,3	MCF-7	breast:
3	chr22:30788715..30789368-chr22:30804732..30805268,2	MCF-7	breast:
4	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
5	chr22:30781811..30783816-chr22:30788972..30790591,2	MCF-7	breast:
6	chr22:30787474..30789998-chr22:30829336..30831551,2	K562	blood:

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000099999	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000249590	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	esv3415181	chr22:30789214-30789391	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30789600	Weak transcription	Lung	lung
2	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
5	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
6	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
7	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
8	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
9	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
10	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
11	chr22:30783800-30793000	Weak transcription	Gastric	stomach
12	chr22:30785000-30789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:30786800-30789600	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:30787000-30789800	Enhancers	Primary B cells from cord blood	blood
15	chr22:30787000-30789800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:30787000-30789800	Enhancers	Dnd41	blood
17	chr22:30787200-30789600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr22:30787200-30789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr22:30787200-30790000	Enhancers	HepG2	liver
20	chr22:30787400-30789400	Enhancers	Primary hematopoietic stem cells	blood
21	chr22:30787400-30789600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:30787400-30789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30787400-30789800	Enhancers	Primary T cells from cord blood	blood
24	chr22:30787400-30789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr22:30787400-30789800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr22:30787400-30789800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:30787400-30792600	Enhancers	Liver	Liver
28	chr22:30787600-30789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:30787600-30790000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:30787600-30790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:30787600-30792000	Weak transcription	HMEC	breast
32	chr22:30787600-30792200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr22:30787600-30792400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30787600-30792600	Enhancers	Fetal Thymus	thymus
35	chr22:30787800-30789600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:30787800-30792200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:30787800-30792400	Weak transcription	Brain Anterior Caudate	brain
38	chr22:30787800-30792400	Weak transcription	HSMM	muscle
39	chr22:30787800-30792400	Weak transcription	NHEK	skin
40	chr22:30787800-30792600	Weak transcription	Brain Angular Gyrus	brain
41	chr22:30787800-30792600	Weak transcription	Brain Substantia Nigra	brain
42	chr22:30787800-30792600	Weak transcription	HSMMtube	muscle
43	chr22:30787800-30792600	Weak transcription	HUVEC	blood vessel
44	chr22:30787800-30792600	Weak transcription	NHLF	lung
45	chr22:30787800-30792600	Weak transcription	Osteobl	bone
46	chr22:30788000-30792000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:30788000-30792400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:30788000-30792400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:30788000-30792400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:30788000-30792600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links