Variant report

Variant	rs7128507
Chromosome Location	chr11:93277472-93277473
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	E2F4	chr11:93277345-93277502	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
2	chr11:93276670..93279805-chr11:93289602..93292268,3	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000240202	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11020413	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11020416	0.80[CHD][hapmap];0.84[JPT][hapmap]
rs12223863	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12416843	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12417178	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2399676	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2895470	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2895472	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4753468	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4753471	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125151	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7126188	0.96[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7128507	MED17	cis	cerebellum	SCAN
rs7128507	C11orf75	cis	lymphoblastoid	seeQTL
rs7128507	SCARNA9	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93276800-93277600	Flanking Active TSS	Hela-S3	cervix
2	chr11:93277000-93277800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:93277000-93277800	Enhancers	Thymus	Thymus
4	chr11:93277000-93278000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:93277000-93282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:93277200-93277600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr11:93277200-93277600	Enhancers	Fetal Stomach	stomach
8	chr11:93277200-93277600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:93277200-93277800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:93277200-93277800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:93277200-93277800	Enhancers	Stomach Mucosa	stomach
12	chr11:93277200-93278000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:93277200-93278000	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:93277200-93278000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:93277200-93278000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:93277200-93278000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:93277200-93278000	Enhancers	Fetal Thymus	thymus
18	chr11:93277200-93278000	Enhancers	GM12878-XiMat	blood
19	chr11:93277200-93278000	Enhancers	HUVEC	blood vessel
20	chr11:93277200-93278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:93277200-93279800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:93277200-93280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:93277200-93280200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:93277200-93281800	Weak transcription	Spleen	Spleen
25	chr11:93277200-93293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:93277400-93277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:93277400-93277600	Enhancers	Fetal Intestine Large	intestine
28	chr11:93277400-93277800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:93277400-93277800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:93277400-93277800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:93277400-93278000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:93277400-93278000	Enhancers	Fetal Intestine Small	intestine
33	chr11:93277400-93278000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:93277400-93278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:93277400-93278000	Enhancers	HepG2	liver
36	chr11:93277400-93278200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:93277400-93278200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:93277400-93278200	Enhancers	Primary T cells from cord blood	blood
39	chr11:93277400-93278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:93277400-93278200	Enhancers	Dnd41	blood
41	chr11:93277400-93278600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:93277400-93279000	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:93277400-93279800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:93277400-93279800	Weak transcription	Placenta	Placenta
45	chr11:93277400-93280000	Enhancers	HUES6 Cell Line	embryonic stem cell

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