Variant report

Variant	rs4910505
Chromosome Location	chr11:9809500-9809501
allele	C/T
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	GATA3	chr11:9809229-9810180	SK-N-SH	brain:	n/a	chr11:9809593-9809600
2	REST	chr11:9809256-9810103	PFSK-1	brain:	n/a	chr11:9809374-9809392
3	EP300	chr11:9809450-9810124	SK-N-SH_RA	brain:	n/a	n/a
4	RCOR1	chr11:9809217-9810219	IMR90	lung:	n/a	n/a
5	TEAD4	chr11:9809365-9810249	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr11:9809500-9809775	SK-N-SH	brain:	n/a	n/a
7	MAX	chr11:9809295-9810121	SK-N-SH	brain:	n/a	chr11:9809738-9809747
8	PBX3	chr11:9809291-9810174	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr11:9809289-9810241	SK-N-SH	brain:	n/a	n/a
10	MEF2A	chr11:9809427-9810191	SK-N-SH	brain:	n/a	n/a
11	RXRA	chr11:9809313-9810163	SK-N-SH	brain:	n/a	chr11:9809606-9809622
12	RAD21	chr11:9809496-9809963	SK-N-SH_RA	brain:	n/a	n/a
13	NFIC	chr11:9809260-9810245	SK-N-SH	brain:	n/a	n/a
14	EP300	chr11:9809249-9810226	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr11:9809273-9810193	SK-N-SH	brain:	n/a	chr11:9809606-9809622
16	REST	chr11:9809484-9810014	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr11:9809456-9810144	SK-N-SH	brain:	n/a	n/a
18	EP300	chr11:9809407-9810143	SK-N-SH_RA	brain:	n/a	n/a
19	GATA3	chr11:9808762-9810226	SK-N-SH	brain:	n/a	chr11:9809593-9809600
20	EP300	chr11:9809275-9810180	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr11:9809449-9810044	SK-N-SH	brain:	n/a	n/a
22	JUND	chr11:9809367-9810220	SK-N-SH	brain:	n/a	n/a
23	NFIC	chr11:9809286-9810137	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr11:9808762-9810365	SK-N-SH	brain:	n/a	chr11:9809764-9809774 chr11:9809780-9809790 chr11:9809436-9809444
25	FOSL2	chr11:9809378-9810141	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr11:9809370-9810164	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:9809406-9809976	PFSK-1	brain:	n/a	n/a
28	TCF12	chr11:9809196-9810260	SK-N-SH	brain:	n/a	chr11:9809764-9809774 chr11:9809780-9809790 chr11:9809436-9809444
29	MAX	chr11:9809421-9810163	SK-N-SH	brain:	n/a	chr11:9809738-9809747
30	POLR2A	chr11:9809461-9810085	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr11:9809320-9810185	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9807438..9810264-chr11:10314419..10316538,2	MCF-7	breast:
2	chr11:9807314..9809632-chr11:10328158..10330110,2	K562	blood:

Variant related genes	Relation type
SBF2	TF binding region
ENSG00000133812	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1045634	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10770061	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10840287	1.00[CHB][hapmap]
rs10840300	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs10840301	0.95[EUR][1000 genomes]
rs10840302	0.96[EUR][1000 genomes]
rs10840304	0.82[EUR][1000 genomes]
rs10840307	0.87[EUR][1000 genomes]
rs10840315	1.00[CHB][hapmap]
rs10840325	1.00[CHB][hapmap]
rs10840327	1.00[CHB][hapmap]
rs10840337	1.00[CHB][hapmap]
rs10840338	1.00[CHB][hapmap]
rs11042466	1.00[CHB][hapmap]
rs11042486	1.00[CHB][hapmap]
rs11042488	1.00[ASN][1000 genomes]
rs11042494	0.96[EUR][1000 genomes]
rs11042495	0.96[EUR][1000 genomes]
rs11042496	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042497	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042500	1.00[CHB][hapmap]
rs11042511	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11042526	1.00[CHB][hapmap]
rs11042543	1.00[CHB][hapmap]
rs11042550	1.00[CHB][hapmap]
rs11042556	1.00[CHB][hapmap]
rs11042559	1.00[CHB][hapmap]
rs11042561	1.00[CHB][hapmap]
rs11042571	1.00[CHB][hapmap]
rs11042579	1.00[CHB][hapmap]
rs11600183	1.00[CHB][hapmap]
rs11602515	1.00[CHB][hapmap]
rs11607582	1.00[CHB][hapmap]
rs12419564	1.00[CHB][hapmap]
rs12419923	1.00[CHB][hapmap]
rs12420712	1.00[ASN][1000 genomes]
rs12421200	1.00[CHB][hapmap]
rs12421878	1.00[CHB][hapmap]
rs12786198	0.97[EUR][1000 genomes]
rs12786236	1.00[CHB][hapmap]
rs12807017	1.00[CHB][hapmap]
rs12807967	1.00[ASN][1000 genomes]
rs12808226	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17268632	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17270804	1.00[CHB][hapmap]
rs17271847	1.00[CHB][hapmap]
rs17353206	1.00[ASN][1000 genomes]
rs17355675	1.00[CHB][hapmap]
rs17355924	1.00[CHB][hapmap]
rs17356792	1.00[CHB][hapmap]
rs360148	0.90[EUR][1000 genomes]
rs360149	0.91[EUR][1000 genomes]
rs3829252	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs4909915	1.00[CHB][hapmap]
rs4910065	1.00[ASN][1000 genomes]
rs4910075	1.00[CHB][hapmap]
rs4910080	1.00[CHB][hapmap]
rs4910081	1.00[CHB][hapmap]
rs4910084	1.00[CHB][hapmap]
rs4910487	1.00[CHB][hapmap]
rs4910497	1.00[CHB][hapmap]
rs4910500	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs4910501	0.96[EUR][1000 genomes]
rs4910502	0.96[EUR][1000 genomes]
rs4910503	0.96[EUR][1000 genomes]
rs61876907	1.00[ASN][1000 genomes]
rs7102804	0.95[EUR][1000 genomes]
rs7105203	0.93[EUR][1000 genomes]
rs7113459	0.94[EUR][1000 genomes]
rs7120754	0.96[EUR][1000 genomes]
rs7124706	0.94[EUR][1000 genomes]
rs7131445	1.00[CHB][hapmap]
rs7925875	0.95[EUR][1000 genomes]
rs7936721	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7943610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9795085	0.95[EUR][1000 genomes]
rs9795121	0.93[EUR][1000 genomes]
rs9795122	0.93[EUR][1000 genomes]
rs9795123	0.95[EUR][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

No data

Chromatin state (count:120 , 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	chr11:9798200-9810400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9798600-9811600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:9799200-9812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9799200-9812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9799600-9810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9799600-9823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:9799800-9811600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:9799800-9812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:9799800-9812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:9799800-9812200	Strong transcription	Liver	Liver
15	chr11:9799800-9814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:9800200-9823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:9801200-9809600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:9801600-9823800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:9802600-9810600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:9802800-9810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:9803000-9823400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:9803000-9823400	Weak transcription	Psoas Muscle	Psoas
23	chr11:9803200-9809800	Weak transcription	HUVEC	blood vessel
24	chr11:9803200-9811400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:9803200-9828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:9803200-9828600	Weak transcription	Gastric	stomach
27	chr11:9803200-9828800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:9803400-9811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:9804400-9809800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:9804600-9812000	Strong transcription	Fetal Lung	lung
31	chr11:9804800-9810200	Strong transcription	Primary T cells from cord blood	blood
32	chr11:9804800-9811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:9804800-9811800	Strong transcription	Fetal Intestine Small	intestine
34	chr11:9804800-9811800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:9804800-9812000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:9805000-9811000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr11:9805000-9811600	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr11:9805000-9811600	Strong transcription	Fetal Brain Female	brain
39	chr11:9805000-9811800	Strong transcription	Thymus	Thymus
40	chr11:9805000-9812200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:9805000-9812800	Strong transcription	HepG2	liver
42	chr11:9805000-9815600	Strong transcription	Fetal Intestine Large	intestine
43	chr11:9805200-9811800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:9805200-9815600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:9806200-9810800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:9806800-9809600	Strong transcription	Left Ventricle	heart
47	chr11:9806800-9809800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:9806800-9809800	Strong transcription	Placenta	Placenta
49	chr11:9806800-9821400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:9806800-9828600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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