Variant report

Variant	rs7855432
Chromosome Location	chr9:100760113-100760114
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100760016-100760510	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:100760000-100760302	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr9:100760100-100760250	AoAF	blood vessel:	n/a	n/a
4	POLR2A	chr9:100759993-100760543	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:100760108-100760418	GM12891	blood:	n/a	n/a
6	POLR2A	chr9:100759588-100760654	K562	blood:	n/a	n/a
7	POLR2A	chr9:100760057-100760581	HL-60	blood:	n/a	n/a
8	POLR2A	chr9:100760044-100760610	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:100759737-100760968	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:100759301-100760926	K562	blood:	n/a	n/a
11	POLR2A	chr9:100759649-100760544	A549	lung:	n/a	n/a
12	POLR2A	chr9:100759981-100760472	HepG2	liver:	n/a	n/a
13	POLR2A	chr9:100759965-100760592	K562	blood:	n/a	n/a
14	POLR2A	chr9:100759999-100760467	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:100760070-100760330	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:100759621-100760871	K562	blood:	n/a	n/a
17	POLR2A	chr9:100760097-100760247	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
2	chr9:100757927..100760728-chr9:100775253..100778756,3	MCF-7	breast:
3	chr9:100756332..100760444-chr9:100817600..100819282,3	MCF-7	breast:
4	chr9:100683949..100685611-chr9:100757327..100760260,3	K562	blood:

No data

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000136932	Chromatin interaction
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12001675	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12554172	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3739672	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742711	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743150	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743157	0.81[MEX][hapmap]
rs6478522	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6478539	0.81[MEX][hapmap]
rs7019033	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7041878	0.88[ASN][1000 genomes]
rs7850685	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852752	0.89[CHB][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs7869762	0.86[MEX][hapmap]
rs874610	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957955	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335186	chr9:100756939-100760935	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7855432	HIATL1	cis	cerebellum	SCAN
rs7855432	C9orf156	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
2	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
6	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain
9	chr9:100751000-100761800	Weak transcription	Right Atrium	heart
10	chr9:100751000-100764200	Weak transcription	Fetal Brain Male	brain
11	chr9:100751000-100765200	Weak transcription	Aorta	Aorta
12	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:100753000-100761600	Weak transcription	HSMMtube	muscle
14	chr9:100753000-100767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:100753000-100768400	Weak transcription	Fetal Heart	heart
16	chr9:100753000-100769000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:100753400-100767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:100753600-100767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:100754600-100784200	Strong transcription	Dnd41	blood
20	chr9:100754600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:100755200-100782200	Strong transcription	HepG2	liver
22	chr9:100755200-100783800	Strong transcription	NHEK	skin
23	chr9:100755400-100763800	Weak transcription	Gastric	stomach
24	chr9:100755400-100783000	Weak transcription	Stomach Mucosa	stomach
25	chr9:100755600-100769200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:100755600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:100755800-100761400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:100755800-100782200	Strong transcription	K562	blood
29	chr9:100756000-100777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:100756200-100761600	Weak transcription	Ovary	ovary
31	chr9:100756200-100767200	Weak transcription	Colonic Mucosa	Colon
32	chr9:100756400-100763000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:100756400-100767200	Weak transcription	Spleen	Spleen
34	chr9:100756400-100772600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:100756400-100783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:100756400-100783800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:100756400-100784400	Strong transcription	Fetal Thymus	thymus
38	chr9:100756600-100761600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:100756600-100762400	Weak transcription	Small Intestine	intestine
40	chr9:100756600-100763000	Strong transcription	Hela-S3	cervix
41	chr9:100756600-100767600	Weak transcription	Brain Germinal Matrix	brain
42	chr9:100756600-100785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr9:100756800-100765600	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:100756800-100771600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:100756800-100771800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:100756800-100781200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr9:100756800-100783000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:100756800-100783400	Strong transcription	HMEC	breast
49	chr9:100757000-100760400	Strong transcription	Thymus	Thymus
50	chr9:100757000-100762600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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