Variant report

Variant	rs11227752
Chromosome Location	chr11:67016783-67016784
allele	A/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	POLR2A	chr11:67016051-67016856	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:67016084-67017011	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:67016110-67016823	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67016745-67016825	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr11:67015689-67016793	MCF-7	breast:	n/a	chr11:67015854-67015861 chr11:67015847-67015863
6	SIN3AK20	chr11:67015517-67016902	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:67016025-67016862	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:67015292-67025062	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67015526-67017298	GM12878	blood:	n/a	n/a
10	NR2F2	chr11:67015863-67016927	MCF-7	breast:	n/a	chr11:67016675-67016690

No.	Distal block	Cell Line	Cell type
1	chr11:67001329..67003402-chr11:67014947..67017604,2	MCF-7	breast:
2	chr11:67014012..67018797-chr11:67139535..67143686,6	MCF-7	breast:
3	chr11:66821593..66825355-chr11:67016030..67019325,8	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10896161	1.00[EUR][1000 genomes]
rs10896165	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227695	1.00[AMR][1000 genomes]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11227701	0.89[AMR][1000 genomes]
rs11227703	1.00[AMR][1000 genomes]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227715	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227755	1.00[JPT][hapmap]
rs11227761	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	1.00[ASN][1000 genomes]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282264	1.00[EUR][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs3730145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55936319	1.00[AMR][1000 genomes]
rs56132056	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61395951	1.00[AMR][1000 genomes]
rs61758503	0.87[AMR][1000 genomes]
rs61758508	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891311	0.89[AMR][1000 genomes]
rs61891316	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61891317	1.00[AMR][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891342	1.00[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs61891344	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61891346	1.00[AMR][1000 genomes]
rs61891586	0.88[ASN][1000 genomes]
rs61891588	0.88[ASN][1000 genomes]
rs61891589	0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs6591234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6591235	0.85[EUR][1000 genomes]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926981	1.00[AMR][1000 genomes]
rs7946985	1.00[AMR][1000 genomes]
rs9630209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
3	chr11:67010000-67018400	Genic enhancers	Placenta	Placenta
4	chr11:67010000-67020200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:67010000-67025000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67010000-67026600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:67010200-67018800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
18	chr11:67010400-67019000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr11:67010400-67020200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
21	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
22	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
24	chr11:67010400-67025000	Strong transcription	NH-A	brain
25	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:67010600-67018200	Strong transcription	K562	blood
27	chr11:67010600-67018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:67010600-67019600	Strong transcription	Primary T cells from cord blood	blood
29	chr11:67010600-67020000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:67010600-67020000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:67010600-67020200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:67010600-67020400	Strong transcription	Fetal Intestine Small	intestine
33	chr11:67010600-67024400	Strong transcription	Psoas Muscle	Psoas
34	chr11:67010600-67024800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:67010600-67025000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:67010600-67025000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:67010600-67025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:67010600-67026400	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:67010600-67026600	Strong transcription	Fetal Intestine Large	intestine
40	chr11:67010800-67018800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:67010800-67018800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:67010800-67019600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:67010800-67020200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:67010800-67020400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:67010800-67024400	Strong transcription	Colon Smooth Muscle	Colon
46	chr11:67010800-67024600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:67010800-67025000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:67010800-67025000	Strong transcription	Dnd41	blood
49	chr11:67011000-67018800	Strong transcription	Gastric	stomach
50	chr11:67011000-67020200	Strong transcription	Brain Inferior Temporal Lobe	brain

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