Variant report

Variant	rs1791684
Chromosome Location	chr11:66369211-66369212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66366106..66376502-chr11:66378243..66386807,17	K562	blood:
2	chr11:66366218..66370656-chr11:66381863..66384866,5	MCF-7	breast:
3	chr11:66369001..66372002-chr11:66383720..66385688,4	MCF-7	breast:
4	chr11:66369093..66371332-chr11:66372275..66374529,3	MCF-7	breast:
5	chr11:66360351..66362912-chr11:66368673..66371357,4	K562	blood:
6	chr11:66360734..66364580-chr11:66368011..66371374,4	K562	blood:
7	chr11:66358617..66363403-chr11:66366526..66370072,6	MCF-7	breast:
8	chr11:66363080..66365268-chr11:66368011..66370677,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182791	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12577111	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs12805133	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs1671062	0.86[JPT][hapmap]
rs1671063	0.81[JPT][hapmap]
rs1671064	0.83[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs1815739	0.82[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs2000939	0.82[ASN][1000 genomes]
rs2276138	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2279863	0.85[JPT][hapmap]
rs3018318	0.83[ASN][1000 genomes]
rs34900764	0.87[EUR][1000 genomes]
rs3741363	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs474602	0.96[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs477557	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs486584	0.82[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930387	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs498045	0.96[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs503250	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs509556	0.83[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs535211	0.91[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs540874	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.83[ASN][1000 genomes]
rs545009	0.83[ASN][1000 genomes]
rs556759	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560556	0.91[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs566673	0.81[CEU][hapmap]
rs572846	0.91[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs577023	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs577335	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580910	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs608248	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs615205	0.82[ASN][1000 genomes]
rs618838	0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs630021	0.82[ASN][1000 genomes]
rs636128	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs677488	0.83[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs678397	0.83[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs692892	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs693025	0.81[AMR][1000 genomes]
rs7925108	0.81[JPT][hapmap]
rs8432	0.86[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];0.80[YRI][hapmap]

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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1791684	CTSF	cis	parietal	SCAN
rs1791684	ACTN3	cis	lymphoblastoid	seeQTL
rs1791684	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs1791684	KDM2A	cis	cerebellum	SCAN
rs1791684	YIF1A	cis	cerebellum	SCAN
rs1791684	CTSF	cis	cerebellum	SCAN
rs1791684	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs1791684	PRDX5	cis	cerebellum	SCAN
rs1791684	ACTN3	cis	Muscle Skeletal	GTEx
rs1791684	TRMT112	cis	cerebellum	SCAN
rs1791684	CCDC85B	cis	parietal	SCAN
rs1791684	CCS	cis	multi-tissue	Pritchard
rs1791684	CDC42EP2	cis	cerebellum	SCAN
rs1791684	BBS1	cis	cerebellum	SCAN
rs1791684	CCS	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66361400-66369600	Weak transcription	HMEC	breast
2	chr11:66361400-66369800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66361400-66371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:66361400-66382800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:66361600-66369600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:66361600-66372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:66361600-66374400	Weak transcription	Psoas Muscle	Psoas
9	chr11:66361600-66377000	Weak transcription	HUVEC	blood vessel
10	chr11:66362200-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66363000-66372400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:66363000-66377200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:66363200-66370000	Weak transcription	HSMM	muscle
14	chr11:66363200-66383200	Weak transcription	Fetal Kidney	kidney
15	chr11:66363400-66382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:66363400-66383200	Weak transcription	Fetal Brain Male	brain
17	chr11:66363600-66371600	Weak transcription	K562	blood
18	chr11:66363600-66374600	Weak transcription	Stomach Mucosa	stomach
19	chr11:66363600-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:66363800-66377400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:66366000-66374200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:66366200-66369400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:66366200-66370000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:66366200-66370800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:66366400-66369400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:66366400-66369400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:66366400-66369400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr11:66366400-66369600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:66366400-66369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66366400-66370000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:66366400-66370600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:66366400-66370600	Strong transcription	HepG2	liver
33	chr11:66366400-66373800	Strong transcription	Brain Anterior Caudate	brain
34	chr11:66366400-66374400	Strong transcription	Placenta	Placenta
35	chr11:66366400-66374600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:66366400-66374600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:66366400-66375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66366400-66375200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:66366400-66375200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:66366400-66375200	Strong transcription	Fetal Thymus	thymus
41	chr11:66366400-66375600	Strong transcription	Thymus	Thymus
42	chr11:66366400-66376000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:66366600-66369400	Strong transcription	Colon Smooth Muscle	Colon
44	chr11:66366600-66370200	Strong transcription	Brain Angular Gyrus	brain
45	chr11:66366600-66370400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:66366600-66370800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:66366600-66371000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:66366600-66373600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:66366600-66373600	Strong transcription	Fetal Lung	lung
50	chr11:66366600-66374000	Strong transcription	Fetal Intestine Large	intestine

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