Variant report

Variant	rs12270264
Chromosome Location	chr11:32608498-32608499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32608073-32608565	MCF-7	breast:	n/a	n/a
2	RFX5	chr11:32607888-32608500	K562	blood:	n/a	chr11:32608219-32608228
3	MAZ	chr11:32608380-32608584	GM12878	blood:	n/a	n/a
4	ARID3A	chr11:32608177-32608567	K562	blood:	n/a	n/a
5	CTCF	chr11:32608380-32608530	HAc	cerebellar:	n/a	n/a
6	EP300	chr11:32608070-32608653	K562	blood:	n/a	n/a
7	CTCF	chr11:32607984-32608508	HCT-116	colon:	n/a	n/a
8	MAFF	chr11:32608061-32608639	K562	blood:	n/a	n/a
9	CTCF	chr11:32608046-32608536	A549	lung:	n/a	n/a
10	POLR2A	chr11:32608004-32608708	HepG2	liver:	n/a	n/a
11	JUND	chr11:32608199-32608725	K562	blood:	n/a	chr11:32608468-32608480
12	POLR2A	chr11:32608301-32608510	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr11:32607982-32608656	SK-N-SH	brain:	n/a	n/a
14	E2F4	chr11:32608404-32608604	MCF10A-Er-Src	breast:	n/a	n/a
15	MAZ	chr11:32608000-32608513	K562	blood:	n/a	n/a
16	RCOR1	chr11:32608197-32608733	K562	blood:	n/a	n/a
17	RCOR1	chr11:32608238-32608733	K562	blood:	n/a	n/a
18	POLR2A	chr11:32607902-32609333	K562	blood:	n/a	n/a
19	MAFK	chr11:32607922-32608668	K562	blood:	n/a	chr11:32607944-32607953
20	CTCF	chr11:32608029-32608916	A549	lung:	n/a	n/a
21	POLR2A	chr11:32608149-32608532	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32440943..32443516-chr11:32607260..32609866,2	K562	blood:
2	chr11:32551423..32553117-chr11:32607270..32609512,2	MCF-7	breast:
3	chr11:32605232..32608580-chr11:32610157..32613118,3	MCF-7	breast:
4	chr11:32605665..32608550-chr11:32673934..32676744,2	K562	blood:
5	chr11:32602922..32605619-chr11:32607155..32608879,2	K562	blood:
6	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
7	chr11:32395890..32398375-chr11:32606788..32608603,2	K562	blood:

No data

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000183242	Chromatin interaction
ENSG00000149100	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11031825	1.00[AMR][1000 genomes]
rs11031887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031923	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11031946	0.84[AFR][1000 genomes]
rs11031948	0.84[AFR][1000 genomes]
rs11031982	1.00[YRI][hapmap]
rs12270653	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271181	0.84[AFR][1000 genomes]
rs12271387	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12275668	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12276553	1.00[YRI][hapmap]
rs12276711	1.00[YRI][hapmap]
rs12280927	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12281351	1.00[YRI][hapmap]
rs12283935	0.84[AFR][1000 genomes]
rs12285254	1.00[YRI][hapmap]
rs12286034	0.84[AFR][1000 genomes]
rs12286067	0.84[AFR][1000 genomes]
rs12286919	1.00[YRI][hapmap]
rs12287194	1.00[YRI][hapmap]
rs12287273	1.00[AMR][1000 genomes]
rs12287838	0.84[AFR][1000 genomes]
rs12288162	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288783	1.00[AMR][1000 genomes]
rs12289390	0.84[AFR][1000 genomes]
rs12291088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292455	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292567	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12293175	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294446	1.00[AMR][1000 genomes]
rs12294449	1.00[AMR][1000 genomes]
rs13377413	0.84[AFR][1000 genomes]
rs41490947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936995	1.00[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12270264	PRRG4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32606400-32609000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:32606800-32609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:32606800-32610000	Weak transcription	Placenta	Placenta
4	chr11:32606800-32610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:32606800-32610200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:32606800-32610200	Weak transcription	Lung	lung
7	chr11:32606800-32610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:32606800-32611000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:32606800-32611400	Weak transcription	Esophagus	oesophagus
10	chr11:32606800-32611400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:32606800-32611400	Weak transcription	Stomach Mucosa	stomach
12	chr11:32606800-32613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:32606800-32613400	Weak transcription	Aorta	Aorta
14	chr11:32606800-32616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:32607000-32608600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:32607000-32608600	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:32607000-32609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:32607000-32609800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:32607000-32610000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:32607000-32610000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:32607000-32610200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:32607000-32610200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:32607000-32610200	Weak transcription	HSMMtube	muscle
24	chr11:32607000-32610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:32607000-32610400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:32607000-32611400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:32607000-32617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:32607200-32608600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:32607200-32608600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:32607200-32608600	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr11:32607200-32608600	Enhancers	HUVEC	blood vessel
32	chr11:32607200-32609000	Enhancers	HepG2	liver
33	chr11:32607200-32609200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:32607200-32609400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:32607200-32609600	Weak transcription	Fetal Intestine Small	intestine
36	chr11:32607200-32609600	Weak transcription	Fetal Stomach	stomach
37	chr11:32607200-32609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:32607200-32610000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:32607200-32610000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:32607200-32610000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:32607200-32610000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:32607200-32610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:32607200-32610200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:32607200-32610200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:32607200-32610200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:32607200-32610200	Weak transcription	Fetal Brain Female	brain
47	chr11:32607200-32610200	Weak transcription	Fetal Lung	lung
48	chr11:32607200-32610200	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:32607200-32610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:32607200-32610200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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