Variant report

Variant	rs10810113
Chromosome Location	chr9:14200005-14200006
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	MXI1	chr9:14198547-14200665	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:
2	chr9:14185623..14188206-chr9:14197745..14200671,2	MCF-7	breast:
3	chr9:14198108..14200232-chr9:14207218..14209041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234982	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10738355	0.80[CHB][hapmap]
rs10738356	0.84[AMR][1000 genomes]
rs10756536	0.81[CEU][hapmap];0.84[MEX][hapmap]
rs10756539	0.86[AMR][1000 genomes]
rs10810110	0.82[CHB][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs10810112	0.85[ASN][1000 genomes]
rs10810114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10961402	0.80[CHB][hapmap]
rs10961413	0.80[ASN][1000 genomes]
rs10961420	0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs12235129	0.80[ASN][1000 genomes]
rs12377502	0.81[CEU][hapmap]
rs12551619	0.85[YRI][hapmap]
rs2382454	0.80[CHB][hapmap]
rs2382456	0.80[CHB][hapmap]
rs2382457	0.90[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2382458	0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2382459	1.00[ASW][hapmap];0.81[CHD][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2890984	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2890985	0.86[AMR][1000 genomes]
rs4532695	0.86[ASN][1000 genomes]
rs4628344	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6474822	0.81[CEU][hapmap];0.84[MEX][hapmap]
rs6474824	0.80[CHB][hapmap]
rs7035474	0.81[CEU][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3414994	chr9:14199966-14200218	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10810113	NFIB	cis	multi-tissue	Pritchard
rs10810113	TRPC1	trans	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:14191800-14202800	Enhancers	Fetal Heart	heart
3	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
4	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:14193800-14203000	Enhancers	Fetal Brain Female	brain
6	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
7	chr9:14197000-14201400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:14197000-14201400	Enhancers	HMEC	breast
9	chr9:14197600-14200200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:14197600-14202800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:14197800-14200200	Enhancers	NHDF-Ad	bronchial
12	chr9:14197800-14201600	Enhancers	Right Ventricle	heart
13	chr9:14198000-14201400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:14198200-14201200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:14198200-14204000	Enhancers	Colon Smooth Muscle	Colon
16	chr9:14198400-14200200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:14198400-14200200	Enhancers	Liver	Liver
18	chr9:14198400-14200400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:14198400-14200600	Enhancers	NHEK	skin
20	chr9:14198600-14200200	Enhancers	Brain Angular Gyrus	brain
21	chr9:14198600-14200200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:14198600-14200200	Enhancers	Fetal Stomach	stomach
23	chr9:14198600-14201600	Enhancers	Left Ventricle	heart
24	chr9:14198600-14201600	Enhancers	Psoas Muscle	Psoas
25	chr9:14198600-14203200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:14198800-14200200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:14198800-14200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:14198800-14201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14199000-14200200	Enhancers	Stomach Mucosa	stomach
30	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:14199200-14200200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:14199200-14202200	Weak transcription	HSMMtube	muscle
33	chr9:14199200-14203200	Weak transcription	NHLF	lung
34	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:14199400-14200200	Enhancers	Osteobl	bone
36	chr9:14199400-14200400	Weak transcription	Aorta	Aorta
37	chr9:14199400-14200400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr9:14199400-14201600	Enhancers	Right Atrium	heart
39	chr9:14199400-14201600	Enhancers	HUVEC	blood vessel
40	chr9:14199400-14202800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:14199400-14203000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:14199400-14203200	Weak transcription	HSMM	muscle
43	chr9:14199400-14205600	Weak transcription	Small Intestine	intestine
44	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
45	chr9:14199400-14207400	Weak transcription	Gastric	stomach
46	chr9:14199400-14209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:14199600-14201000	Weak transcription	Colonic Mucosa	Colon
49	chr9:14199600-14201200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:14199600-14201200	Enhancers	Skeletal Muscle Male	skeletal muscle

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