Variant report

Variant	rs11032960
Chromosome Location	chr11:34998014-34998015
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	MAFK	chr11:34997998-34998250	HepG2	liver:	n/a	chr11:34998095-34998110
2	POLR2A	chr11:34997978-34998061	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr11:34997898-35000314	SK-N-SH	brain:	n/a	chr11:34999537-34999546
4	NFIC	chr11:34997497-34999686	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr11:34997868-34999680	SK-N-SH	brain:	n/a	chr11:34999537-34999546
6	EP300	chr11:34997913-34999628	SK-N-SH	brain:	n/a	chr11:34998848-34998858 chr11:34999536-34999546 chr11:34999058-34999072
7	PBX3	chr11:34997964-34999632	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:34997916-35000201	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr11:34998004-34999412	IMR90	lung:	n/a	chr11:34998095-34998110
10	EP300	chr11:34997973-34999706	SK-N-SH	brain:	n/a	chr11:34998848-34998858 chr11:34999536-34999546 chr11:34999058-34999072

Variant related genes	Relation type
PDHX	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10488805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049333	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10836316	1.00[ASN][1000 genomes]
rs11032891	1.00[ASN][1000 genomes]
rs11032894	1.00[ASN][1000 genomes]
rs11032895	1.00[ASN][1000 genomes]
rs11032898	1.00[ASN][1000 genomes]
rs11032899	1.00[ASN][1000 genomes]
rs11032903	1.00[ASN][1000 genomes]
rs11032907	0.83[ASN][1000 genomes]
rs11032939	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032956	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032963	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271867	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12272820	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273167	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274680	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278318	1.00[ASN][1000 genomes]
rs12279952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280958	1.00[ASN][1000 genomes]
rs12284844	1.00[ASN][1000 genomes]
rs12290759	1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292993	1.00[ASN][1000 genomes]
rs12294339	1.00[ASN][1000 genomes]
rs12294397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509659	1.00[ASN][1000 genomes]
rs1509660	1.00[ASN][1000 genomes]
rs16926365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926479	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926673	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17362114	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17364197	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17436343	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17711539	0.90[ASN][1000 genomes]
rs17712273	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1828299	1.00[ASN][1000 genomes]
rs2077926	0.83[ASN][1000 genomes]
rs41512444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796371	1.00[ASN][1000 genomes]
rs56061305	1.00[ASN][1000 genomes]
rs56922113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57611620	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58127349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59676516	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61760973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484738	1.00[ASN][1000 genomes]
rs7106831	1.00[ASN][1000 genomes]
rs7111695	1.00[ASN][1000 genomes]
rs7114359	1.00[ASN][1000 genomes]
rs7114970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115749	1.00[ASN][1000 genomes]
rs7119807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120509	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122048	1.00[ASN][1000 genomes]
rs7123029	1.00[ASN][1000 genomes]
rs7124099	1.00[ASN][1000 genomes]
rs7124428	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7129517	1.00[ASN][1000 genomes]
rs7129533	1.00[ASN][1000 genomes]
rs7130678	1.00[ASN][1000 genomes]
rs7130774	1.00[ASN][1000 genomes]
rs7131229	1.00[ASN][1000 genomes]
rs7131272	1.00[ASN][1000 genomes]
rs7924969	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927857	1.00[ASN][1000 genomes]
rs7929287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932461	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947848	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2754010	chr11:34940724-35001024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
2	chr11:34948000-35000400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:34948000-35006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:34951800-35000200	Weak transcription	Psoas Muscle	Psoas
5	chr11:34952200-35010800	Weak transcription	Small Intestine	intestine
6	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:34962000-35008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:34962800-35006600	Weak transcription	Esophagus	oesophagus
9	chr11:34965400-35008200	Weak transcription	Gastric	stomach
10	chr11:34969400-34999200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:34970000-35000400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:34975400-35006800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:34976600-35018400	Weak transcription	Spleen	Spleen
14	chr11:34977800-35009800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:34981600-35000000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:34981600-35000200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:34981600-35006000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:34982200-35014200	Weak transcription	Fetal Brain Male	brain
19	chr11:34983400-35006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:34983400-35008200	Weak transcription	Aorta	Aorta
21	chr11:34983600-35018200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:34983800-35000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:34984800-35001000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:34985200-35000200	Weak transcription	Lung	lung
25	chr11:34985200-35026600	Weak transcription	Colonic Mucosa	Colon
26	chr11:34985400-34998200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:34985600-34998600	Weak transcription	Stomach Mucosa	stomach
28	chr11:34987000-35008200	Weak transcription	Pancreas	Pancrea
29	chr11:34987000-35017000	Weak transcription	K562	blood
30	chr11:34987200-35000000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:34988400-35000200	Weak transcription	Ovary	ovary
32	chr11:34988800-35001000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:34988800-35006200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:34989800-35000000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:34989800-35000200	Weak transcription	Right Ventricle	heart
36	chr11:34991000-35020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:34991200-35000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:34991400-35000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:34991600-35000000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:34991800-35000000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:34991800-35000200	Weak transcription	Brain Substantia Nigra	brain
42	chr11:34991800-35000200	Weak transcription	Left Ventricle	heart
43	chr11:34991800-35005600	Weak transcription	Placenta	Placenta
44	chr11:34991800-35006600	Weak transcription	Fetal Intestine Small	intestine
45	chr11:34992200-35002600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:34992400-34998200	Weak transcription	Adipose Nuclei	Adipose
47	chr11:34992400-34999800	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:34992400-35002200	Weak transcription	Fetal Thymus	thymus
49	chr11:34992400-35004800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:34992400-35009400	Weak transcription	GM12878-XiMat	blood

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