Variant report

Variant	rs73391327
Chromosome Location	chr15:40530838-40530839
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	MAX	chr15:40530705-40531171	ECC-1	luminal epithelium:	n/a	chr15:40530782-40530792
2	E2F6	chr15:40530711-40531733	H1-hESC	embryonic stem cell:	n/a	chr15:40531215-40531224
3	MAX	chr15:40530718-40531739	H1-hESC	embryonic stem cell:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
4	JUN	chr15:40530694-40531836	K562	blood:	n/a	chr15:40531546-40531556 chr15:40531570-40531578 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531214-40531223 chr15:40531569-40531579 chr15:40531569-40531579
5	POLR2A	chr15:40530693-40531799	H1-neurons	neurons:	n/a	n/a
6	MAX	chr15:40530802-40531711	H1-hESC	embryonic stem cell:	n/a	chr15:40531232-40531241
7	SP1	chr15:40530757-40531581	H1-hESC	embryonic stem cell:	n/a	chr15:40531013-40531025 chr15:40531016-40531030 chr15:40531020-40531030 chr15:40531108-40531122 chr15:40531352-40531366 chr15:40531014-40531024 chr15:40531111-40531125 chr15:40531014-40531023 chr15:40531020-40531029
8	MAX	chr15:40530763-40531771	ECC-1	luminal epithelium:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
9	TAF1	chr15:40530825-40531609	H1-neurons	neurons:	n/a	n/a
10	REST	chr15:40530615-40531924	H1-neurons	neurons:	n/a	chr15:40531168-40531181 chr15:40530778-40530791 chr15:40530661-40530674 chr15:40530774-40530784 chr15:40531770-40531780 chr15:40531747-40531754
11	E2F6	chr15:40530656-40531767	H1-hESC	embryonic stem cell:	n/a	chr15:40531215-40531224
12	SIN3A	chr15:40530804-40531650	H1-hESC	embryonic stem cell:	n/a	chr15:40530975-40530984
13	MAX	chr15:40530649-40531741	H1-hESC	embryonic stem cell:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
14	REST	chr15:40530721-40531856	H1-neurons	neurons:	n/a	chr15:40531168-40531181 chr15:40530778-40530791 chr15:40530774-40530784 chr15:40531770-40531780 chr15:40531747-40531754
15	MAX	chr15:40530768-40531631	K562	blood:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
16	POLR2A	chr15:40530181-40531721	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
PAK6	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1017842	1.00[EUR][1000 genomes]
rs16970425	1.00[EUR][1000 genomes]
rs58030495	1.00[EUR][1000 genomes]
rs60019318	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61523420	1.00[EUR][1000 genomes]
rs73389518	1.00[EUR][1000 genomes]
rs73389528	1.00[EUR][1000 genomes]
rs73391311	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391321	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391322	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73392673	1.00[EUR][1000 genomes]
rs73392686	1.00[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
2	chr15:40522400-40531800	Weak transcription	Gastric	stomach
3	chr15:40525200-40531000	Weak transcription	Brain Anterior Caudate	brain
4	chr15:40525200-40531200	Weak transcription	Right Atrium	heart
5	chr15:40525400-40531200	Weak transcription	Adipose Nuclei	Adipose
6	chr15:40527800-40531000	Weak transcription	K562	blood
7	chr15:40528000-40531000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:40528000-40531000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:40530400-40531000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr15:40530400-40531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:40530400-40531000	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr15:40530400-40531000	Enhancers	NHEK	skin
13	chr15:40530400-40531200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40530400-40531200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:40530400-40531200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:40530400-40532000	Enhancers	Lung	lung
17	chr15:40530600-40531000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr15:40530600-40531000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr15:40530600-40531000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr15:40530600-40531000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:40530600-40531000	Enhancers	Brain Cingulate Gyrus	brain
22	chr15:40530600-40531000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:40530600-40531000	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr15:40530600-40531000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr15:40530600-40531200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:40530600-40531200	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr15:40530600-40531200	Enhancers	Esophagus	oesophagus
28	chr15:40530600-40531200	Enhancers	Pancreas	Pancrea
29	chr15:40530600-40531400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40530600-40531400	Enhancers	Placenta	Placenta
31	chr15:40530600-40531600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:40530600-40532000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr15:40530600-40532000	Bivalent Enhancer	Fetal Thymus	thymus
34	chr15:40530600-40533000	Enhancers	Fetal Brain Male	brain
35	chr15:40530600-40534000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:40530600-40534000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:40530800-40531000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:40530800-40531000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:40530800-40531000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr15:40530800-40531000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40530800-40531000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
42	chr15:40530800-40531000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:40530800-40531000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:40530800-40531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:40530800-40531000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:40530800-40531000	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:40530800-40531000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr15:40530800-40531000	Enhancers	Right Ventricle	heart
49	chr15:40530800-40531000	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
50	chr15:40530800-40531000	Enhancers	Thymus	Thymus

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