Variant report

Variant	rs35327372
Chromosome Location	chr15:93489747-93489748
allele	C/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	POLR2A	chr15:93489729-93490028	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93481880..93488025-chr15:93488179..93492236,5	K562	blood:
2	chr15:93482816..93485781-chr15:93488823..93491729,2	K562	blood:

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000173575	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10520717	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10520719	0.80[AMR][1000 genomes]
rs11074127	0.84[AMR][1000 genomes]
rs11630582	0.82[AMR][1000 genomes]
rs11632522	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11634204	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11634207	0.80[AMR][1000 genomes]
rs11637185	0.81[AMR][1000 genomes]
rs12901651	1.00[ASN][1000 genomes]
rs12901950	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12904680	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12906132	0.82[AMR][1000 genomes]
rs12915072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916015	1.00[AFR][1000 genomes]
rs17525800	0.82[AMR][1000 genomes]
rs2119010	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2272459	0.82[AMR][1000 genomes]
rs28540863	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28668136	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34266454	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34498571	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35477598	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35596808	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36048863	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3784786	0.82[AMR][1000 genomes]
rs4778067	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56062215	1.00[ASN][1000 genomes]
rs56358327	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57114827	1.00[ASN][1000 genomes]
rs58589040	1.00[ASN][1000 genomes]
rs66726419	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67190144	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72761955	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35327372	CHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93457000-93489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93466600-93490600	Strong transcription	Fetal Lung	lung
3	chr15:93466800-93490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:93467200-93490200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:93467200-93490600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:93467400-93490000	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr15:93467600-93490400	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr15:93467600-93490600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:93468600-93490400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:93469000-93489800	Strong transcription	Fetal Thymus	thymus
11	chr15:93473800-93490400	Weak transcription	Right Atrium	heart
12	chr15:93474000-93491400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr15:93474200-93490600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:93474200-93490600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:93474400-93490000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:93474400-93490000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:93474400-93490400	Strong transcription	NH-A	brain
18	chr15:93474400-93490600	Strong transcription	Hela-S3	cervix
19	chr15:93474400-93492200	Strong transcription	Fetal Kidney	kidney
20	chr15:93474800-93489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:93474800-93490600	Strong transcription	Fetal Muscle Leg	muscle
22	chr15:93474800-93490800	Strong transcription	HSMM	muscle
23	chr15:93474800-93492200	Strong transcription	HSMMtube	muscle
24	chr15:93474800-93492200	Strong transcription	Osteobl	bone
25	chr15:93474800-93501800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:93475000-93492600	Strong transcription	NHDF-Ad	bronchial
27	chr15:93475200-93490200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:93475800-93490400	Strong transcription	Adipose Nuclei	Adipose
29	chr15:93475800-93492200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr15:93476200-93490600	Strong transcription	HMEC	breast
31	chr15:93476200-93490800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:93476800-93490800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:93476800-93492200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:93477200-93493000	Strong transcription	Placenta	Placenta
35	chr15:93477200-93501200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:93477400-93490200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:93477600-93490000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:93477600-93490200	Strong transcription	Liver	Liver
39	chr15:93477800-93490200	Strong transcription	A549	lung
40	chr15:93478200-93491200	Strong transcription	HUVEC	blood vessel
41	chr15:93478600-93503200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:93479000-93490400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:93479000-93490400	Strong transcription	HepG2	liver
44	chr15:93480200-93490600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:93480400-93490200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:93480400-93490800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:93480400-93493000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:93480600-93492200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:93480800-93492000	Strong transcription	Colonic Mucosa	Colon
50	chr15:93480800-93492600	Strong transcription	Brain Anterior Caudate	brain

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