Variant report

Variant	rs183110
Chromosome Location	chr11:9811616-9811617
allele	C/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	TBL1XR1	chr11:9811502-9811826	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:9811471-9811702	K562	blood:	n/a	n/a
3	MAZ	chr11:9811431-9811790	K562	blood:	n/a	n/a
4	BHLHE40	chr11:9811605-9811897	K562	blood:	n/a	n/a
5	STAT5A	chr11:9811433-9811897	K562	blood:	n/a	n/a
6	PML	chr11:9811481-9811798	K562	blood:	n/a	n/a
7	ZBTB7A	chr11:9811530-9811723	K562	blood:	n/a	n/a
8	GATA1	chr11:9811196-9812483	PBDE	blood:	n/a	chr11:9812305-9812314 chr11:9811686-9811694 chr11:9812296-9812313 chr11:9812305-9812315
9	NR2F2	chr11:9811436-9811828	K562	blood:	n/a	n/a
10	RFX5	chr11:9811600-9811768	K562	blood:	n/a	n/a
11	POLR2A	chr11:9811486-9811712	K562	blood:	n/a	n/a
12	EP300	chr11:9811523-9811842	K562	blood:	n/a	n/a
13	GATA2	chr11:9811437-9811823	K562	blood:	n/a	chr11:9811686-9811694
14	CTCF	chr11:9811579-9811892	K562	blood:	n/a	n/a
15	GATA1	chr11:9811470-9811804	K562	blood:	n/a	chr11:9811686-9811694
16	POLR2A	chr11:9811449-9811735	K562	blood:	n/a	n/a
17	MXI1	chr11:9811587-9811793	K562	blood:	n/a	n/a
18	REST	chr11:9811492-9811724	K562	blood:	n/a	n/a
19	MAX	chr11:9811549-9811719	K562	blood:	n/a	n/a
20	RCOR1	chr11:9811348-9811812	K562	blood:	n/a	n/a
21	IRF1	chr11:9811463-9811839	K562	blood:	n/a	n/a
22	JUND	chr11:9811456-9811765	K562	blood:	n/a	n/a
23	EP300	chr11:9811412-9812051	K562	blood:	n/a	n/a
24	NR2F2	chr11:9811348-9811878	K562	blood:	n/a	n/a
25	GATA1	chr11:9811275-9813817	K562	blood:	n/a	chr11:9812305-9812314 chr11:9811686-9811694 chr11:9812296-9812313 chr11:9812305-9812315
26	PML	chr11:9811315-9811901	K562	blood:	n/a	n/a
27	MYC	chr11:9811396-9811817	K562	blood:	n/a	n/a
28	REST	chr11:9811515-9811661	K562	blood:	n/a	n/a
29	GABPA	chr11:9811507-9811727	K562	blood:	n/a	n/a
30	GATA2	chr11:9811490-9811786	K562	blood:	n/a	chr11:9811686-9811694
31	CEBPD	chr11:9811413-9811932	K562	blood:	n/a	n/a
32	TRIM28	chr11:9811355-9811917	K562	blood:	n/a	n/a
33	TEAD4	chr11:9811349-9811934	K562	blood:	n/a	n/a
34	TEAD4	chr11:9811466-9811799	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPD	chr11:9811370-9811916	K562	blood:	n/a	n/a
36	UBTF	chr11:9811520-9811835	K562	blood:	n/a	n/a
37	POLR2A	chr11:9811387-9811786	K562	blood:	n/a	n/a
38	RCOR1	chr11:9811470-9811781	K562	blood:	n/a	n/a
39	HDAC2	chr11:9811490-9811721	K562	blood:	n/a	n/a
40	STAT5A	chr11:9811455-9811831	K562	blood:	n/a	n/a
41	TAL1	chr11:9811389-9811866	K562	blood:	n/a	n/a
42	YY1	chr11:9811444-9811700	K562	blood:	n/a	n/a
43	YY1	chr11:9811416-9811740	K562	blood:	n/a	n/a
44	GATA2	chr11:9811364-9811836	K562	blood:	n/a	chr11:9811686-9811694
45	TEAD4	chr11:9811299-9811904	K562	blood:	n/a	n/a
46	GATA1	chr11:9811433-9811920	PBDEFetal	blood:	n/a	chr11:9811686-9811694
47	ZMIZ1	chr11:9811456-9811789	K562	blood:	n/a	n/a

Variant related genes	Relation type
SBF2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10118	0.91[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770062	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1392026	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1875030	0.90[ASN][1000 genomes]
rs2173030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2645017	0.87[ASN][1000 genomes]
rs2645029	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs360120	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs360124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs360127	0.92[ASN][1000 genomes]
rs360129	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs360130	0.98[ASN][1000 genomes]
rs360131	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360132	0.98[ASN][1000 genomes]
rs360140	0.84[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap]
rs360141	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360142	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs360143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs360146	0.90[ASN][1000 genomes]
rs360150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs360151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs360158	0.95[CHB][hapmap]
rs380806	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs391304	0.91[ASN][1000 genomes]
rs394315	0.93[ASN][1000 genomes]
rs432849	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs438151	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs446760	0.90[CHB][hapmap]
rs472487	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs634680	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6483726	0.85[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' 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
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS 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	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs183110	SWAP70	cis	multi-tissue	Pritchard
rs183110	ASCL3	cis	parietal	SCAN
rs183110	GVIN1	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9795200-9812800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9797400-9821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:9797800-9811800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:9799200-9812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:9799200-9812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9799600-9823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:9799800-9812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:9799800-9812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:9799800-9812200	Strong transcription	Liver	Liver
11	chr11:9799800-9814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:9800200-9823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:9801600-9823800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:9803000-9823400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:9803000-9823400	Weak transcription	Psoas Muscle	Psoas
16	chr11:9803200-9828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9803200-9828600	Weak transcription	Gastric	stomach
18	chr11:9803200-9828800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:9804600-9812000	Strong transcription	Fetal Lung	lung
20	chr11:9804800-9811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:9804800-9811800	Strong transcription	Fetal Intestine Small	intestine
22	chr11:9804800-9811800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:9804800-9812000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:9805000-9811800	Strong transcription	Thymus	Thymus
25	chr11:9805000-9812200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:9805000-9812800	Strong transcription	HepG2	liver
27	chr11:9805000-9815600	Strong transcription	Fetal Intestine Large	intestine
28	chr11:9805200-9811800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:9805200-9815600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:9806800-9821400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:9806800-9828600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:9807200-9823200	Weak transcription	Fetal Heart	heart
33	chr11:9807800-9811800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:9807800-9811800	Strong transcription	Ovary	ovary
35	chr11:9807800-9811800	Strong transcription	NHEK	skin
36	chr11:9808200-9811800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:9808200-9811800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:9808200-9811800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:9808200-9811800	Strong transcription	Brain Anterior Caudate	brain
40	chr11:9808200-9811800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:9808400-9828800	Weak transcription	Fetal Kidney	kidney
42	chr11:9808800-9811800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9808800-9811800	Strong transcription	Brain Germinal Matrix	brain
44	chr11:9808800-9812600	Genic enhancers	NHDF-Ad	bronchial
45	chr11:9809000-9811800	Strong transcription	Fetal Thymus	thymus
46	chr11:9809000-9812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:9809200-9811800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:9809400-9812000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:9809600-9811800	Strong transcription	Lung	lung
50	chr11:9809600-9823000	Weak transcription	HMEC	breast

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