Variant report

Variant	rs13308573
Chromosome Location	chr7:138350100-138350101
allele	G/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	TBP	chr7:138350069-138350201	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr7:138349769-138352437	SK-N-SH	brain:	n/a	chr7:138350358-138350365
3	KAP1	chr7:138350068-138350926	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:

Variant related genes	Relation type
SVOPL	TF binding region
ENSG00000122779	Chromatin interaction

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

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

rs_ID	r²[population]
rs11762109	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762197	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv3325609	chr7:138348437-138351285	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3426851	chr7:138348612-138351035	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:138348600-138350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:138349400-138350200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:138349400-138350200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:138349400-138351200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:138349400-138351600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:138349600-138350200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:138349600-138350200	Enhancers	Colonic Mucosa	Colon
9	chr7:138349600-138350200	Enhancers	Fetal Thymus	thymus
10	chr7:138349600-138350400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:138349600-138350400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:138349600-138351200	Weak transcription	Right Atrium	heart
13	chr7:138349600-138351400	Enhancers	Placenta	Placenta
14	chr7:138349600-138351800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:138349600-138352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:138349600-138353000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:138349600-138353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:138349800-138350600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:138349800-138350600	Enhancers	HepG2	liver
20	chr7:138349800-138351200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:138349800-138351200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:138349800-138351400	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:138349800-138351800	Enhancers	Ovary	ovary
24	chr7:138349800-138352000	Enhancers	Fetal Intestine Small	intestine
25	chr7:138349800-138352600	Enhancers	Fetal Heart	heart
26	chr7:138349800-138355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:138350000-138350200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr7:138350000-138350200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:138350000-138350200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:138350000-138350200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:138350000-138350200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:138350000-138350200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:138350000-138350200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr7:138350000-138350200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr7:138350000-138350200	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr7:138350000-138350200	Enhancers	Esophagus	oesophagus
37	chr7:138350000-138350200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:138350000-138350400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:138350000-138350400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:138350000-138350800	Enhancers	Brain Angular Gyrus	brain
41	chr7:138350000-138350800	Enhancers	Spleen	Spleen
42	chr7:138350000-138351000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:138350000-138351800	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:138350000-138351800	Enhancers	Fetal Kidney	kidney
45	chr7:138350000-138352200	Enhancers	Fetal Intestine Large	intestine
46	chr7:138350000-138353200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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