Variant report

Variant	rs803124
Chromosome Location	chr17:38763876-38763877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38751255..38752916-chr17:38763179..38764693,2	MCF-7	breast:
2	chr17:38755696..38758368-chr17:38761351..38764585,4	K562	blood:
3	chr17:38763229..38767526-chr17:38771780..38775135,4	MCF-7	breast:
4	chr17:38735976..38740811-chr17:38759775..38765396,5	MCF-7	breast:
5	chr17:38676796..38678412-chr17:38763235..38765302,2	MCF-7	breast:
6	chr17:38761736..38765184-chr17:39682897..39687464,6	MCF-7	breast:
7	chr17:38759539..38762168-chr17:38763435..38764989,2	MCF-7	breast:
8	chr17:38763443..38765054-chr17:38777371..38779183,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171345	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7218478	0.94[ASN][1000 genomes]
rs9630727	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs803124	KRT222	cis	cerebellum	SCAN
rs803124	C17orf66	cis	cerebellum	SCAN
rs803124	FLJ43826	cis	parietal	SCAN
rs803124	CCR7	Cis_1M	lymphoblastoid	RTeQTL
rs803124	SMARCE1	cis	multi-tissue	Pritchard
rs803124	SMARCE1	Cis_1M	lymphoblastoid	RTeQTL
rs803124	WIPF2	cis	parietal	SCAN
rs803124	KRT222	cis	parietal	SCAN
rs803124	HNF1B	cis	cerebellum	SCAN
rs803124	TADA2A	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38755800-38764400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:38758200-38765200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:38759000-38765400	Enhancers	Placenta	Placenta
4	chr17:38759800-38764200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:38760800-38766200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:38761200-38765000	Weak transcription	Adipose Nuclei	Adipose
7	chr17:38761600-38764000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:38761800-38764000	Enhancers	Primary T cells from cord blood	blood
9	chr17:38761800-38769000	Weak transcription	Esophagus	oesophagus
10	chr17:38761800-38769000	Weak transcription	Spleen	Spleen
11	chr17:38762200-38765400	Enhancers	Fetal Thymus	thymus
12	chr17:38763000-38764800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr17:38763200-38764200	Enhancers	Lung	lung
14	chr17:38763200-38764600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:38763200-38764600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr17:38763400-38764400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr17:38763400-38764600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:38763400-38764600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr17:38763400-38764600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr17:38763400-38764600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr17:38763400-38764600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr17:38763400-38764600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr17:38763400-38764800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:38763400-38775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:38763600-38764600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr17:38763600-38764600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr17:38763800-38764000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr17:38763800-38764000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:38763800-38764000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:38763800-38764200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38763800-38764400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr17:38763800-38764400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:38763800-38764600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr17:38763800-38764600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr17:38763800-38765200	Enhancers	Primary B cells from cord blood	blood
36	chr17:38763800-38765200	Enhancers	Primary B cells from peripheral blood	blood

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