Variant report

Variant	rs11227555
Chromosome Location	chr11:66405514-66405515
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	POLR2A	chr11:66405238-66408285	U87	brain:	n/a	n/a
2	SIN3AK20	chr11:66405179-66406927	MCF-7	breast:	n/a	n/a
3	MAX	chr11:66405479-66406559	H1-hESC	embryonic stem cell:	n/a	chr11:66405777-66405784
4	POLR2A	chr11:66404954-66407048	K562	blood:	n/a	n/a
5	YY1	chr11:66405499-66406981	GM12891	blood:	n/a	chr11:66406155-66406165 chr11:66406154-66406166 chr11:66406429-66406451 chr11:66406155-66406165 chr11:66406146-66406160 chr11:66406151-66406160
6	POLR2A	chr11:66405020-66407228	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr11:66405380-66406614	ECC-1	luminal epithelium:	n/a	chr11:66405777-66405784
8	POLR2A	chr11:66405006-66407108	GM12878	blood:	n/a	n/a
9	JUND	chr11:66405506-66406349	K562	blood:	n/a	n/a
10	MYC	chr11:66405040-66406550	NB4	blood:	n/a	chr11:66405777-66405784
11	POLR2A	chr11:66404832-66408589	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:66405398-66406542	A549	lung:	n/a	n/a
13	ZBTB7A	chr11:66405464-66405990	K562	blood:	n/a	n/a
14	POLR2A	chr11:66404758-66409916	PANC-1	pancreas:	n/a	n/a
15	TEAD4	chr11:66405331-66407023	K562	blood:	n/a	n/a
16	NR2F2	chr11:66405309-66406955	K562	blood:	n/a	n/a
17	CHD2	chr11:66405489-66406594	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:66405266-66407152	HL-60	blood:	n/a	n/a
19	CTCF	chr11:66405420-66405570	HAc	cerebellar:	n/a	chr11:66405466-66405479
20	E2F6	chr11:66405235-66406606	A549	lung:	n/a	chr11:66405297-66405308 chr11:66405813-66405824 chr11:66405297-66405308 chr11:66405881-66405890
21	POLR2A	chr11:66404691-66408516	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:66404992-66407700	PFSK-1	brain:	n/a	n/a
23	HA-E2F1	chr11:66405469-66406685	MCF-7	breast:	n/a	chr11:66405812-66405823 chr11:66405813-66405824 chr11:66405881-66405890
24	MAFK	chr11:66405463-66406393	Hela-S3	cervix:	n/a	n/a
25	YY1	chr11:66405381-66406879	H1-hESC	embryonic stem cell:	n/a	chr11:66406155-66406165 chr11:66406154-66406166 chr11:66406429-66406451 chr11:66406155-66406165 chr11:66406146-66406160 chr11:66406151-66406160
26	MAX	chr11:66405418-66406503	SK-N-SH	brain:	n/a	chr11:66405777-66405784
27	MXI1	chr11:66405117-66407319	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:66405421-66406855	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:66405311-66407890	Hela-S3	cervix:	n/a	n/a
30	POU2F2	chr11:66405492-66406533	GM12878	blood:	n/a	chr11:66406385-66406397
31	MYC	chr11:66405358-66406758	K562	blood:	n/a	chr11:66405777-66405784
32	NFYB	chr11:66405474-66406528	GM12878	blood:	n/a	chr11:66405925-66405940 chr11:66405965-66405980
33	MAX	chr11:66405399-66406503	H1-hESC	embryonic stem cell:	n/a	chr11:66405777-66405784
34	POLR2A	chr11:66405417-66406621	K562	blood:	n/a	n/a
35	MAX	chr11:66405289-66406720	A549	lung:	n/a	chr11:66405777-66405784
36	POLR2A	chr11:66405483-66406940	HCT-116	colon:	n/a	n/a
37	SP1	chr11:66405419-66406684	HCT-116	colon:	n/a	chr11:66406379-66406393 chr11:66405956-66405977
38	MYC	chr11:66405456-66406490	K562	blood:	n/a	chr11:66405777-66405784
39	MAX	chr11:66405320-66406667	HepG2	liver:	n/a	chr11:66405777-66405784
40	POLR2A	chr11:66405381-66406852	GM12878	blood:	n/a	n/a
41	NFATC1	chr11:66405482-66407207	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:66404803-66409178	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:66405456-66406713	GM19193	blood:	n/a	n/a
44	MAX	chr11:66405409-66406487	SK-N-SH	brain:	n/a	chr11:66405777-66405784
45	POLR2A	chr11:66404751-66409197	GM12878	blood:	n/a	n/a
46	TCF12	chr11:66405185-66406811	A549	lung:	n/a	n/a
47	POLR2A	chr11:66405508-66406509	HEK293	kidney:	n/a	n/a
48	POLR2A	chr11:66405085-66407159	A549	lung:	n/a	n/a
49	TBL1XR1	chr11:66405500-66407014	K562	blood:	n/a	n/a
50	POLR2A	chr11:66405479-66407767	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66312205..66315427-chr11:66405180..66408532,5	MCF-7	breast:
2	chr11:66347129..66350093-chr11:66403365..66405848,2	K562	blood:
3	chr11:66358981..66362373-chr11:66404226..66407674,4	MCF-7	breast:
4	chr11:66404688..66407513-chr11:66442475..66445757,5	K562	blood:
5	chr11:66358590..66362001-chr11:66403964..66407353,7	K562	blood:
6	chr11:66358667..66365231-chr11:66403397..66409781,9	K562	blood:
7	chr11:66405423..66410273-chr11:66443859..66447584,9	K562	blood:
8	chr11:66404107..66407187-chr11:66434979..66436836,3	MCF-7	breast:
9	chr11:66404049..66406988-chr11:66609291..66612357,4	MCF-7	breast:
10	chr11:66405112..66408239-chr11:66443909..66446987,4	MCF-7	breast:
11	chr11:66333517..66336306-chr11:66404884..66407774,3	K562	blood:

Variant related genes	Relation type
RBM4	TF binding region
ENSG00000173653	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000182791	Chromatin interaction
ENSG00000258297	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174080	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1110708	1.00[TSI][hapmap]
rs11227492	1.00[YRI][hapmap]
rs11227567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273436	1.00[EUR][1000 genomes]
rs12290557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12292547	0.89[AFR][1000 genomes]
rs34011505	1.00[AMR][1000 genomes]
rs73505443	0.89[AFR][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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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 target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 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	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:66395400-66405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:66396600-66405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:66397600-66405600	Weak transcription	Ovary	ovary
6	chr11:66401200-66405600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:66404200-66405600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:66404800-66405600	Enhancers	Spleen	Spleen
9	chr11:66404800-66405600	Enhancers	NHDF-Ad	bronchial
10	chr11:66404800-66405800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:66404800-66407000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:66405000-66405600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:66405000-66405600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:66405000-66405600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
15	chr11:66405000-66405800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:66405000-66405800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:66405000-66405800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:66405000-66405800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:66405000-66405800	Flanking Active TSS	Fetal Brain Male	brain
20	chr11:66405000-66405800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr11:66405000-66405800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:66405000-66405800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:66405000-66405800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:66405000-66405800	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:66405000-66405800	Flanking Active TSS	K562	blood
26	chr11:66405200-66405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:66405200-66405600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:66405200-66405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:66405200-66405600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr11:66405200-66405600	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:66405200-66405600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr11:66405200-66405600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr11:66405200-66405600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr11:66405200-66405600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr11:66405200-66405600	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:66405200-66405600	Flanking Active TSS	Fetal Heart	heart
37	chr11:66405200-66405600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr11:66405200-66405600	Flanking Active TSS	Right Atrium	heart
39	chr11:66405200-66405600	Enhancers	Small Intestine	intestine
40	chr11:66405200-66405600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr11:66405200-66405800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr11:66405200-66405800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:66405200-66405800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:66405200-66405800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:66405200-66405800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr11:66405200-66405800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:66405200-66405800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:66405200-66405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:66405200-66405800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:66405200-66405800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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