Variant report

Variant	rs711433
Chromosome Location	chr7:105153191-105153192
allele	A/G
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	NR3C1	chr7:105152763-105153224	A549	lung:	n/a	chr7:105152997-105153011 chr7:105152885-105152911 chr7:105152889-105152907 chr7:105152885-105152911 chr7:105152996-105153012
2	POLR2A	chr7:105153123-105153739	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105139662..105141341-chr7:105152826..105155555,3	K562	blood:
2	chr7:105151835..105158861-chr7:105160122..105163792,12	MCF-7	breast:
3	chr7:105152955..105155476-chr7:105155749..105158829,5	K562	blood:
4	chr7:105147334..105150075-chr7:105152769..105155658,2	K562	blood:

Variant related genes	Relation type
PUS7	TF binding region
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12540022	0.91[JPT][hapmap]
rs1706888	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706914	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1706915	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1706923	1.00[CEU][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs1728646	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1728649	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462610	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2463634	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2692428	0.90[ASN][1000 genomes]
rs2697019	0.90[ASN][1000 genomes]
rs2697020	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697021	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735369	0.85[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs67661063	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6953327	0.85[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs6957263	0.85[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs6958132	0.82[JPT][hapmap]
rs698191	0.90[ASN][1000 genomes]
rs711427	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711430	0.80[YRI][hapmap]
rs711432	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711436	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818470	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs818481	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818625	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
21	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
22	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
23	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs711433	FLJ20485	cis	multi-tissue	Pritchard
rs711433	LOC339524	trans	parietal	SCAN
rs711433	SMCP	trans	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105124400-105161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:105128600-105161200	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:105128600-105161600	Weak transcription	Brain Substantia Nigra	brain
5	chr7:105128800-105161200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:105129200-105153400	Weak transcription	Fetal Lung	lung
7	chr7:105134400-105161200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:105134800-105161600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:105135200-105154000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:105137800-105161200	Weak transcription	NHDF-Ad	bronchial
11	chr7:105137800-105161200	Weak transcription	NHLF	lung
12	chr7:105141000-105161800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:105141400-105161200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:105141400-105161200	Weak transcription	Fetal Brain Male	brain
15	chr7:105141400-105161400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:105141600-105161200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:105141600-105161400	Weak transcription	Primary B cells from cord blood	blood
18	chr7:105143000-105159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:105143000-105159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:105143000-105161200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:105143000-105161200	Weak transcription	Esophagus	oesophagus
22	chr7:105143000-105161200	Weak transcription	Placenta	Placenta
23	chr7:105143000-105161200	Weak transcription	Ovary	ovary
24	chr7:105143000-105161200	Weak transcription	Spleen	Spleen
25	chr7:105143000-105161600	Weak transcription	Aorta	Aorta
26	chr7:105143000-105161800	Weak transcription	Thymus	Thymus
27	chr7:105143200-105153800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:105143400-105160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:105143400-105161400	Weak transcription	Fetal Brain Female	brain
30	chr7:105143800-105161200	Weak transcription	Lung	lung
31	chr7:105143800-105161400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:105144000-105153400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:105144200-105161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:105145400-105161200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:105146200-105160000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:105146200-105161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:105146200-105161400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:105146200-105161600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:105146200-105161800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:105146600-105153400	Weak transcription	HMEC	breast
41	chr7:105146600-105159400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:105146600-105160000	Weak transcription	NH-A	brain
43	chr7:105146600-105161200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:105146800-105159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:105146800-105161200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:105146800-105161200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:105146800-105161200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:105147200-105161200	Weak transcription	HSMMtube	muscle
49	chr7:105147400-105161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:105148800-105161200	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links