Variant report

Variant	rs35243633
Chromosome Location	chr15:40530775-40530776
allele	-/A
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	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
7	MAX	chr15:40530763-40531771	ECC-1	luminal epithelium:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
8	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
9	E2F6	chr15:40530656-40531767	H1-hESC	embryonic stem cell:	n/a	chr15:40531215-40531224
10	MAX	chr15:40530649-40531741	H1-hESC	embryonic stem cell:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
11	REST	chr15:40530721-40531856	H1-neurons	neurons:	n/a	chr15:40531168-40531181 chr15:40530778-40530791 chr15:40530774-40530784 chr15:40531770-40531780 chr15:40531747-40531754
12	MAX	chr15:40530768-40531631	K562	blood:	n/a	chr15:40531232-40531241 chr15:40530782-40530792
13	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1017843	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070257	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1545820	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971966	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3784394	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7178193	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900055	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9920750	0.94[EUR][1000 genomes];0.81[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	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
3	chr15:40513400-40530800	Weak transcription	A549	lung
4	chr15:40522400-40531800	Weak transcription	Gastric	stomach
5	chr15:40524400-40530800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:40525200-40530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:40525200-40531000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:40525200-40531200	Weak transcription	Right Atrium	heart
9	chr15:40525400-40531200	Weak transcription	Adipose Nuclei	Adipose
10	chr15:40526600-40530800	Weak transcription	Thymus	Thymus
11	chr15:40527800-40531000	Weak transcription	K562	blood
12	chr15:40528000-40530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:40528000-40530800	Weak transcription	GM12878-XiMat	blood
14	chr15:40528000-40531000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:40528000-40531000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:40528200-40530800	Weak transcription	Primary B cells from cord blood	blood
17	chr15:40530400-40530800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr15:40530400-40530800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:40530400-40530800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:40530400-40530800	Enhancers	Primary B cells from peripheral blood	blood
21	chr15:40530400-40530800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:40530400-40530800	Enhancers	Brain Germinal Matrix	brain
23	chr15:40530400-40530800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr15:40530400-40530800	Enhancers	HMEC	breast
25	chr15:40530400-40531000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr15:40530400-40531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:40530400-40531000	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr15:40530400-40531000	Enhancers	NHEK	skin
29	chr15:40530400-40531200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40530400-40531200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:40530400-40531200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:40530400-40532000	Enhancers	Lung	lung
33	chr15:40530600-40530800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr15:40530600-40530800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr15:40530600-40530800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40530600-40530800	Flanking Active TSS	Fetal Brain Female	brain
37	chr15:40530600-40530800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr15:40530600-40530800	Enhancers	Hela-S3	cervix
39	chr15:40530600-40531000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr15:40530600-40531000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr15:40530600-40531000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr15:40530600-40531000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:40530600-40531000	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:40530600-40531000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:40530600-40531000	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr15:40530600-40531000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr15:40530600-40531200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr15:40530600-40531200	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr15:40530600-40531200	Enhancers	Esophagus	oesophagus
50	chr15:40530600-40531200	Enhancers	Pancreas	Pancrea

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