Variant report

Variant	rs10896165
Chromosome Location	chr11:67054559-67054560
allele	C/G
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	MAX	chr11:67054376-67056926	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
2	POLR2A	chr11:67054373-67057033	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67054191-67056657	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67054024-67056735	GM12878	blood:	n/a	n/a
5	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
6	POLR2A	chr11:67054407-67054584	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:67054389-67057085	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
11	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:67054122-67056980	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:67052359-67056719	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:67053151-67056654	GM12891	blood:	n/a	n/a
15	CTCF	chr11:67054440-67054590	HPAF	blood vessel:	n/a	n/a
16	POU2F2	chr11:67054515-67056662	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:67054549-67054729	A549	lung:	n/a	n/a
18	POLR2A	chr11:67054491-67056726	K562	blood:	n/a	n/a
19	STAT5A	chr11:67054484-67056692	GM12878	blood:	n/a	chr11:67055846-67055858 chr11:67055101-67055113 chr11:67055396-67055408 chr11:67055148-67055160
20	POLR2A	chr11:67053261-67056745	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:67054063-67056551	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:67053952-67057709	K562	blood:	n/a	n/a
23	POLR2A	chr11:67054172-67057081	GM19193	blood:	n/a	n/a
24	POLR2A	chr11:67054052-67056689	U87	brain:	n/a	n/a
25	POLR2A	chr11:67054357-67056651	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67054247-67057119	GM15510	blood:	n/a	n/a
27	POLR2A	chr11:67054554-67054703	ProgFib	skin:	n/a	n/a
28	POLR2A	chr11:67053018-67056734	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67050956-67057508	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:67054010-67057380	K562	blood:	n/a	n/a
31	ELF1	chr11:67054049-67056759	GM12878	blood:	n/a	chr11:67056493-67056506
32	PML	chr11:67053908-67056776	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:67054167-67057098	Hela-S3	cervix:	n/a	n/a
34	POU2F2	chr11:67054388-67056582	GM12891	blood:	n/a	n/a
35	MTA3	chr11:67054004-67057712	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:67054110-67056709	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr11:67054425-67054812	HCT-116	colon:	n/a	n/a
38	POLR2A	chr11:67053050-67057062	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:67053147-67056745	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67054386-67057011	K562	blood:	n/a	n/a
41	POLR2A	chr11:67052936-67056685	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:67053986-67056733	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:67051980-67057469	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:67053582-67057078	GM18505	blood:	n/a	n/a
45	POLR2A	chr11:67054224-67057073	GM12892	blood:	n/a	n/a
46	POLR2A	chr11:67054202-67057392	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:67052349-67056602	K562	blood:	n/a	n/a
48	POLR2A	chr11:67054039-67054769	K562	blood:	n/a	n/a
49	POLR2A	chr11:67054010-67056745	GM12892	blood:	n/a	n/a
50	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
2	chr11:67054274..67056695-chr11:67119376..67121625,2	K562	blood:
3	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
4	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
5	chr11:67052872..67055062-chr11:67273802..67275420,2	K562	blood:
6	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
7	chr11:67054211..67056226-chr11:67160780..67163309,2	MCF-7	breast:
8	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000253024	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896161	0.84[EUR][1000 genomes]
rs11227696	0.87[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227732	0.84[EUR][1000 genomes]
rs11227740	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227742	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227744	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227745	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227746	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227750	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227751	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227752	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227765	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227768	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227770	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12223898	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12274774	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12282264	0.84[EUR][1000 genomes]
rs3730145	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes]
rs56132056	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58100805	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61758503	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61758508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61889551	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61889552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs61891586	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891588	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891589	0.84[EUR][1000 genomes]
rs7127431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9630209	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
2	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:67045000-67054600	Weak transcription	Fetal Brain Male	brain
5	chr11:67045000-67054800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:67045000-67055200	Weak transcription	Fetal Kidney	kidney
7	chr11:67045200-67054800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:67045200-67054800	Strong transcription	Brain Germinal Matrix	brain
9	chr11:67045400-67054600	Strong transcription	Fetal Brain Female	brain
10	chr11:67045400-67055800	Genic enhancers	Placenta	Placenta
11	chr11:67045600-67054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:67045600-67054600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:67045600-67054600	Strong transcription	Osteobl	bone
14	chr11:67045600-67054800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:67045600-67055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:67045800-67055000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:67045800-67055000	Strong transcription	Fetal Intestine Large	intestine
18	chr11:67045800-67055000	Weak transcription	Right Atrium	heart
19	chr11:67045800-67055200	Strong transcription	NHLF	lung
20	chr11:67046000-67054800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67046400-67054600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:67046400-67054600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67046400-67055000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67046600-67054600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:67046600-67054600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:67046600-67054600	Genic enhancers	Adipose Nuclei	Adipose
27	chr11:67046800-67054600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:67047800-67055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:67050000-67054600	Genic enhancers	Dnd41	blood
30	chr11:67050800-67056000	Weak transcription	Psoas Muscle	Psoas
31	chr11:67051000-67055000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
32	chr11:67051200-67055000	Genic enhancers	Fetal Thymus	thymus
33	chr11:67051400-67054600	Genic enhancers	Primary T cells from cord blood	blood
34	chr11:67051400-67054800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:67051600-67054800	Weak transcription	K562	blood
36	chr11:67051800-67054600	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:67051800-67055000	Weak transcription	HUVEC	blood vessel
38	chr11:67051800-67055000	Weak transcription	NHDF-Ad	bronchial
39	chr11:67051800-67055200	Weak transcription	HMEC	breast
40	chr11:67051800-67055200	Weak transcription	HSMM	muscle
41	chr11:67052000-67054800	Weak transcription	Hela-S3	cervix
42	chr11:67052000-67055200	Weak transcription	NH-A	brain
43	chr11:67052200-67054600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:67052400-67055400	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr11:67052600-67054600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:67052600-67054800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:67052600-67055000	Genic enhancers	Colonic Mucosa	Colon
48	chr11:67052600-67055000	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr11:67052800-67054600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:67052800-67055000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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