Variant report

Variant	rs2232171
Chromosome Location	chr22:31536972-31536973
allele	A/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	STAT1	chr22:31536436-31537172	Hela-S3	cervix:	n/a	chr22:31536898-31536906 chr22:31536902-31536914 chr22:31536896-31536907
2	TCF12	chr22:31536053-31537389	ECC-1	luminal epithelium:	n/a	chr22:31536437-31536447
3	NFIC	chr22:31536005-31537201	ECC-1	luminal epithelium:	n/a	n/a
4	STAT3	chr22:31536748-31537054	MCF10A-Er-Src	breast:	n/a	chr22:31536898-31536906 chr22:31536902-31536914
5	EP300	chr22:31536005-31537285	ECC-1	luminal epithelium:	n/a	chr22:31536905-31536918 chr22:31536440-31536456
6	NFIC	chr22:31536039-31537197	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr22:31535708-31537125	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31367419..31370310-chr22:31536791..31539101,2	MCF-7	breast:
2	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:
3	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
4	chr22:31476560..31478859-chr22:31533468..31537086,3	MCF-7	breast:

Variant related genes	Relation type
PLA2G3	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000138942	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000264141	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11089483	1.00[EUR][1000 genomes]
rs12158256	1.00[EUR][1000 genomes]
rs12158662	1.00[EUR][1000 genomes]
rs12166075	1.00[EUR][1000 genomes]
rs12166797	1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989230	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs5997936	1.00[EUR][1000 genomes]
rs61736799	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
2	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
3	chr22:31535800-31537000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:31535800-31537000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr22:31536000-31537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:31536000-31537000	Enhancers	Fetal Brain Male	brain
7	chr22:31536000-31537200	Enhancers	Gastric	stomach
8	chr22:31536200-31537000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr22:31536200-31537000	Bivalent Enhancer	NHEK	skin
10	chr22:31536200-31537200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr22:31536200-31538000	Enhancers	Stomach Mucosa	stomach
12	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:31536400-31537000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:31536400-31537000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:31536400-31537000	Enhancers	Fetal Thymus	thymus
16	chr22:31536400-31537200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31536400-31537200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:31536400-31537200	Enhancers	Pancreas	Pancrea
19	chr22:31536400-31537400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr22:31536400-31537800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31536600-31537000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:31536600-31537000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr22:31536600-31537000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31536600-31537000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr22:31536600-31537000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31536600-31537200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr22:31536600-31537200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr22:31536600-31537200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr22:31536600-31537200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:31536600-31537200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:31536600-31537200	Enhancers	Brain Germinal Matrix	brain
32	chr22:31536600-31537400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr22:31536600-31537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:31536600-31538800	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31536600-31538800	Weak transcription	Right Ventricle	heart
36	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
37	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:31536800-31537200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:31536800-31537200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:31536800-31537200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr22:31536800-31537200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:31536800-31537400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr22:31536800-31537600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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