Variant report

Variant	rs11983334
Chromosome Location	chr7:100302434-100302435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100302360-100302510	HRPEpiC	eye:	n/a	n/a
2	SMC3	chr7:100302358-100305057	SK-N-SH	brain:	n/a	chr7:100303048-100303058 chr7:100303044-100303058
3	POLR2A	chr7:100302409-100305383	SK-N-MC	brain:	n/a	n/a
4	CTCF	chr7:100302349-100305278	SK-N-SH	brain:	n/a	chr7:100303045-100303058 chr7:100303045-100303058 chr7:100303047-100303057 chr7:100303042-100303060 chr7:100303045-100303054

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100201967..100204082-chr7:100301657..100303470,2	MCF-7	breast:
2	chr7:100302365..100304789-chr7:100482401..100486103,3	K562	blood:
3	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
4	chr7:100301991..100304914-chr7:100472265..100475755,3	MCF-7	breast:
5	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
6	chr7:100209775..100211370-chr7:100302058..100303626,2	K562	blood:
7	chr7:100209668..100211370-chr7:100302058..100304907,3	K562	blood:
8	chr7:100033372..100035718-chr7:100301969..100303920,2	MCF-7	breast:
9	chr7:100182229..100186397-chr7:100301308..100304608,4	MCF-7	breast:
10	chr7:100224387..100228494-chr7:100301872..100304625,4	MCF-7	breast:
11	chr7:100244936..100248659-chr7:100302010..100305093,4	MCF-7	breast:
12	chr7:100301718..100303631-chr7:100450198..100451705,2	K562	blood:
13	chr7:100181605..100184428-chr7:100302112..100307493,7	MCF-7	breast:
14	chr7:100301473..100305247-chr7:100448414..100451828,11	MCF-7	breast:
15	chr7:100284987..100287383-chr7:100301493..100305069,3	K562	blood:
16	chr7:100302051..100306591-chr7:100312993..100321692,11	MCF-7	breast:
17	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
18	chr7:100301507..100303500-chr7:100307658..100310486,2	MCF-7	breast:
19	chr7:100238260..100241603-chr7:100301224..100306213,4	K562	blood:
20	chr7:100269767..100273038-chr7:100301958..100304641,4	K562	blood:
21	chr7:100301718..100305707-chr7:100447040..100451705,6	K562	blood:
22	chr7:100301951..100303676-chr7:100317505..100319064,2	K562	blood:

No data

Variant related genes	Relation type
POP7	TF binding region
ENSG00000087087	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000240211	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10277087	0.89[JPT][hapmap]
rs10487157	0.84[MEX][hapmap]
rs10953300	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10953301	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11520986	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11760602	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11764045	0.84[MEX][hapmap]
rs11765509	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769012	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772052	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772705	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11772849	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11973874	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11974395	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11979818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980509	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984421	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12531792	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532878	0.84[MEX][hapmap]
rs1734908	0.89[JPT][hapmap]
rs2075671	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs2075674	0.90[MEX][hapmap]
rs221790	0.89[JPT][hapmap]
rs221795	0.89[JPT][hapmap]
rs221801	0.89[JPT][hapmap]
rs2231172	0.90[MEX][hapmap]
rs2272572	1.00[ASW][hapmap];0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293769	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs4727459	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4729602	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4729605	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4729606	0.95[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs4729607	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs504141	0.89[JPT][hapmap]
rs507392	0.89[JPT][hapmap]
rs551238	0.89[JPT][hapmap]
rs62482249	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482250	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482251	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482252	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483567	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62483569	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62483570	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942733	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs6969584	0.84[MEX][hapmap]
rs6969697	0.84[MEX][hapmap]
rs7812123	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11983334	MOSPD3	cis	Whole Blood	GTEx
rs11983334	DLX5	cis	cerebellum	SCAN
rs11983334	GIGYF1	cis	lymphoblastoid	seeQTL
rs11983334	PERQ1	Cis_1M	lymphoblastoid	RTeQTL
rs11983334	TSC22D4	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100292400-100303000	Weak transcription	Right Atrium	heart
2	chr7:100292600-100302800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:100292800-100303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:100293400-100302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:100293800-100302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:100299000-100302800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:100301800-100302600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:100301800-100302800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:100302000-100302600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100302400-100302600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:100302400-100302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:100302400-100302600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:100302400-100302600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:100302400-100302600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:100302400-100302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:100302400-100302600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:100302400-100302600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100302400-100302600	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:100302400-100302600	Enhancers	Brain Hippocampus Middle	brain
20	chr7:100302400-100302600	Enhancers	Colon Smooth Muscle	Colon
21	chr7:100302400-100302600	Enhancers	Right Ventricle	heart
22	chr7:100302400-100302600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:100302400-100302600	Enhancers	Spleen	Spleen
24	chr7:100302400-100302600	Enhancers	A549	lung
25	chr7:100302400-100302600	Enhancers	Dnd41	blood
26	chr7:100302400-100302600	Enhancers	GM12878-XiMat	blood
27	chr7:100302400-100302800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:100302400-100302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:100302400-100302800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:100302400-100302800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:100302400-100302800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:100302400-100302800	Enhancers	K562	blood
33	chr7:100302400-100303000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:100302400-100303000	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:100302400-100303000	Flanking Active TSS	HepG2	liver
36	chr7:100302400-100303400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:100302400-100304800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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