Variant report

Variant	rs11230036
Chromosome Location	chr11:59427645-59427646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59360123..59362224-chr11:59427629..59429741,2	K562	blood:
2	chr11:59426691..59428934-chr11:59429924..59431970,2	K562	blood:
3	chr11:59415544..59418168-chr11:59425035..59427737,3	K562	blood:
4	chr11:59426718..59429219-chr11:59431171..59432816,2	MCF-7	breast:
5	chr11:59426478..59432385-chr11:59434040..59438268,6	K562	blood:
6	chr11:59427010..59429204-chr11:59432808..59435498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166889	Chromatin interaction
ENSG00000255355	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10501380	1.00[CEU][hapmap]
rs11230019	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271110	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272999	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274820	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276505	1.00[CEU][hapmap]
rs12287696	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290453	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12291415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154053	0.94[EUR][1000 genomes]
rs17154234	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17508845	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17510841	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17511545	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17511686	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17592880	1.00[ASN][1000 genomes]
rs17593682	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593836	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594827	0.94[EUR][1000 genomes]
rs17596359	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17596862	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17597065	1.00[CEU][hapmap]
rs17597092	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1938690	1.00[GIH][hapmap]
rs2085962	0.89[EUR][1000 genomes]
rs2508335	1.00[CEU][hapmap]
rs2509279	1.00[CEU][hapmap]
rs475800	0.83[EUR][1000 genomes]
rs485803	1.00[CEU][hapmap]
rs498099	1.00[CEU][hapmap]
rs513979	1.00[CEU][hapmap]
rs524102	1.00[CEU][hapmap]
rs533166	1.00[CEU][hapmap]
rs536544	1.00[CEU][hapmap]
rs540989	0.83[EUR][1000 genomes]
rs549086	1.00[CEU][hapmap]
rs57397608	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591540	1.00[ASN][1000 genomes]
rs7101580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107183	1.00[ASN][1000 genomes]
rs7112355	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7117509	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7118051	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7119530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7130130	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924849	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929816	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948041	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948635	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952380	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997788	1.00[EUR][1000 genomes];1.00[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	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv832172	chr11:59396407-59431115	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11230036	SERPINB6	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59395600-59434600	Weak transcription	Stomach Mucosa	stomach
2	chr11:59402200-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:59402200-59434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:59402400-59427800	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr11:59402400-59428200	Strong transcription	Primary T cells from cord blood	blood
6	chr11:59402600-59428000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:59402600-59428000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:59402600-59428400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:59402600-59428400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:59402600-59428600	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:59402600-59429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:59402600-59434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:59402600-59434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:59402600-59434200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:59402600-59434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:59402800-59428000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:59402800-59428000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:59402800-59428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:59402800-59428000	Strong transcription	Placenta	Placenta
20	chr11:59402800-59428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:59402800-59428600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:59402800-59428800	Strong transcription	Thymus	Thymus
23	chr11:59402800-59429800	Strong transcription	Dnd41	blood
24	chr11:59402800-59431600	Strong transcription	Fetal Intestine Large	intestine
25	chr11:59402800-59434200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:59402800-59434200	Strong transcription	Fetal Thymus	thymus
27	chr11:59402800-59434400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:59403000-59429200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:59403200-59429000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:59403200-59434600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:59403400-59430000	Strong transcription	Osteobl	bone
32	chr11:59403400-59434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:59403400-59434400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:59403600-59434600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:59403800-59429600	Strong transcription	Brain Germinal Matrix	brain
36	chr11:59403800-59433200	Strong transcription	HMEC	breast
37	chr11:59404000-59434600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:59404200-59428400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:59404200-59428800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:59404200-59434600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:59404200-59434600	Strong transcription	NH-A	brain
42	chr11:59408200-59434400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:59409200-59435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:59409600-59427800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:59411800-59428000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:59412200-59432400	Strong transcription	Fetal Brain Female	brain
47	chr11:59412800-59430200	Strong transcription	HepG2	liver
48	chr11:59412800-59433400	Strong transcription	NHDF-Ad	bronchial
49	chr11:59413000-59434000	Strong transcription	Hela-S3	cervix
50	chr11:59413200-59428000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links