Variant report

Variant	rs11227755
Chromosome Location	chr11:67030666-67030667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:67029906-67030746	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:67030112-67031335	U87	brain:	n/a	n/a
3	TCF12	chr11:67030026-67030694	A549	lung:	n/a	n/a
4	RAD21	chr11:67030051-67030677	MCF-7	breast:	n/a	n/a
5	ELF1	chr11:67029846-67030822	HCT-116	colon:	n/a	chr11:67030350-67030363
6	ELF1	chr11:67030012-67030702	MCF-7	breast:	n/a	chr11:67030350-67030363
7	CTCF	chr11:67028793-67031439	SK-N-SH	brain:	n/a	n/a
8	MTA3	chr11:67030045-67030801	GM12878	blood:	n/a	n/a
9	ELF1	chr11:67029852-67030857	MCF-7	breast:	n/a	chr11:67030350-67030363
10	TEAD4	chr11:67030031-67030667	K562	blood:	n/a	n/a
11	PML	chr11:67029913-67030668	GM12878	blood:	n/a	n/a
12	STAT5A	chr11:67029922-67030727	GM12878	blood:	n/a	chr11:67030082-67030094
13	NFIC	chr11:67030024-67031198	SK-N-SH	brain:	n/a	n/a
14	HCFC1	chr11:67029885-67030854	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:67030580-67030730	AG10803	skin:	n/a	n/a
16	ZKSCAN1	chr11:67030653-67030789	Hela-S3	cervix:	n/a	n/a
17	SPI1	chr11:67029889-67030774	HL-60	blood:	n/a	n/a
18	ELF1	chr11:67029943-67030739	K562	blood:	n/a	chr11:67030350-67030363
19	RAD21	chr11:67029966-67030760	HCT-116	colon:	n/a	n/a
20	ELF1	chr11:67030068-67030676	SK-N-SH	brain:	n/a	chr11:67030350-67030363
21	SMC3	chr11:67029862-67030839	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr11:67030040-67030682	A549	lung:	n/a	n/a
23	CTCF	chr11:67029964-67030753	HCT-116	colon:	n/a	n/a
24	CTCF	chr11:67028663-67030771	A549	lung:	n/a	n/a
25	POLR2A	chr11:67030052-67030831	K562	blood:	n/a	n/a
26	ELF1	chr11:67029991-67030673	A549	lung:	n/a	chr11:67030350-67030363
27	ELF1	chr11:67030058-67030729	SK-N-SH	brain:	n/a	chr11:67030350-67030363
28	RFX5	chr11:67030299-67030747	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67030639-67030685	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr11:67030465-67030680	K562	blood:	n/a	n/a
31	ELF1	chr11:67030171-67030873	GM12878	blood:	n/a	chr11:67030350-67030363
32	POLR2A	chr11:67030112-67031379	U87	brain:	n/a	n/a
33	RAD21	chr11:67029912-67030772	HCT-116	colon:	n/a	n/a
34	ELF1	chr11:67029932-67030802	HCT-116	colon:	n/a	chr11:67030350-67030363
35	MAZ	chr11:67029807-67031276	IMR90	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67028634..67031744-chr11:67145224..67149338,6	MCF-7	breast:
2	chr11:67030213..67031112-chr11:67084915..67085971,5	MCF-7	breast:
3	chr11:67029423..67031662-chr11:67157371..67160251,3	MCF-7	breast:
4	chr11:67028872..67031497-chr11:67138430..67141652,4	K562	blood:
5	chr11:67029009..67031852-chr11:67147275..67148992,2	MCF-7	breast:
6	chr11:67028558..67031077-chr11:67114717..67116735,2	MCF-7	breast:
7	chr11:67030407..67031908-chr11:67079709..67081419,2	K562	blood:
8	chr11:66831912..66834853-chr11:67029417..67031416,2	MCF-7	breast:
9	chr11:67029982..67031836-chr11:67123178..67125332,2	K562	blood:
10	chr11:67028370..67030971-chr11:67119641..67121434,2	MCF-7	breast:
11	chr11:66789688..66792643-chr11:67028882..67030976,2	MCF-7	breast:
12	chr11:67028622..67031232-chr21:39798788..39801234,2	MCF-7	breast:
13	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
14	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
15	chr11:67029826..67031104-chr11:67084689..67085614,9	K562	blood:
16	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
17	chr11:67029054..67030834-chr11:67119446..67121966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11227689	1.00[JPT][hapmap]
rs11227690	1.00[JPT][hapmap]
rs11227696	1.00[JPT][hapmap]
rs11227713	1.00[JPT][hapmap]
rs11227740	1.00[JPT][hapmap]
rs11227745	1.00[JPT][hapmap]
rs11227750	1.00[JPT][hapmap]
rs11227752	1.00[JPT][hapmap]
rs11227770	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12274774	1.00[JPT][hapmap]
rs17145414	1.00[JPT][hapmap]
rs3730145	1.00[JPT][hapmap]
rs6591234	1.00[JPT][hapmap]
rs7127431	1.00[JPT][hapmap]
rs9630209	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 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	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028000-67031000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:67028600-67031400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:67028600-67033600	Enhancers	HMEC	breast
6	chr11:67028800-67030800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:67028800-67030800	Enhancers	Fetal Heart	heart
8	chr11:67028800-67030800	Enhancers	Stomach Mucosa	stomach
9	chr11:67028800-67031000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:67028800-67031000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:67028800-67031000	Enhancers	Pancreas	Pancrea
12	chr11:67028800-67031200	Enhancers	Liver	Liver
13	chr11:67028800-67031200	Enhancers	Spleen	Spleen
14	chr11:67028800-67031400	Enhancers	Primary B cells from cord blood	blood
15	chr11:67028800-67031800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
18	chr11:67029000-67030800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:67029000-67030800	Enhancers	Fetal Intestine Large	intestine
20	chr11:67029200-67031200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
22	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
23	chr11:67029400-67030800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:67029400-67030800	Enhancers	Fetal Stomach	stomach
25	chr11:67029400-67030800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:67029400-67030800	Enhancers	A549	lung
27	chr11:67029400-67031000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:67029400-67031000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:67029400-67031000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:67029400-67031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:67029400-67031000	Enhancers	Fetal Intestine Small	intestine
32	chr11:67029400-67031200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:67029400-67031200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:67029400-67031200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:67029400-67031200	Enhancers	Fetal Muscle Leg	muscle
36	chr11:67029400-67031800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:67029600-67030800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:67029600-67030800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr11:67029600-67030800	Enhancers	Right Ventricle	heart
42	chr11:67029600-67031000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:67029600-67031600	Enhancers	Placenta	Placenta
44	chr11:67029600-67033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:67029800-67030800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:67029800-67031000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:67029800-67031000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:67029800-67031000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:67029800-67031200	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:67029800-67031200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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