Variant report

Variant	rs61882679
Chromosome Location	chr11:46368559-46368560
allele	G/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	MAX	chr11:46368507-46369139	NB4	blood:	n/a	n/a
2	TCF12	chr11:46368423-46369020	A549	lung:	n/a	n/a
3	POLR2A	chr11:46368524-46368902	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:46368538-46369269	HCT-116	colon:	n/a	n/a
5	MYC	chr11:46367382-46369131	NB4	blood:	n/a	n/a
6	RAD21	chr11:46368344-46369224	SK-N-SH	brain:	n/a	chr11:46368874-46368887 chr11:46368905-46368917 chr11:46368818-46368828 chr11:46368998-46369012 chr11:46368900-46368919
7	POLR2A	chr11:46367645-46369105	HL-60	blood:	n/a	n/a
8	JUN	chr11:46368459-46369222	K562	blood:	n/a	n/a
9	MAX	chr11:46368547-46369216	HepG2	liver:	n/a	n/a
10	MAX	chr11:46368459-46369196	MCF-7	breast:	n/a	n/a
11	FOXM1	chr11:46368543-46369202	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:46368551-46369206	PFSK-1	brain:	n/a	n/a
13	NRF1	chr11:46368526-46369156	SK-N-SH	brain:	n/a	chr11:46368804-46368813
14	POLR2A	chr11:46368405-46368953	HUVEC	blood vessel:	n/a	n/a
15	REST	chr11:46368446-46369100	PFSK-1	brain:	n/a	chr11:46368905-46368918 chr11:46368864-46368877 chr11:46368971-46368984 chr11:46368861-46368874
16	CTCF	chr11:46368497-46369245	A549	lung:	n/a	chr11:46368902-46368915 chr11:46368900-46368916 chr11:46368902-46368915 chr11:46368899-46368917
17	POLR2A	chr11:46368555-46369305	HCT-116	colon:	n/a	n/a
18	SIN3A	chr11:46368559-46369254	GM12878	blood:	n/a	chr11:46368864-46368877 chr11:46368902-46368913
19	POLR2A	chr11:46368402-46369131	HL-60	blood:	n/a	n/a
20	MAX	chr11:46368425-46369205	A549	lung:	n/a	n/a
21	ELF1	chr11:46368462-46369814	GM12878	blood:	n/a	chr11:46369380-46369392 chr11:46369014-46369027 chr11:46368996-46369008 chr11:46369379-46369388 chr11:46369026-46369038 chr11:46369031-46369040
22	RUNX3	chr11:46368413-46369156	GM12878	blood:	n/a	n/a
23	MYC	chr11:46368499-46369263	A549	lung:	n/a	n/a
24	EBF1	chr11:46368446-46368733	GM12878	blood:	n/a	chr11:46368580-46368589 chr11:46368579-46368589
25	MTA3	chr11:46368001-46368854	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:46368390-46369402	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:46368548-46369313	GM12878	blood:	n/a	n/a
28	TAF1	chr11:46368546-46369104	PFSK-1	brain:	n/a	n/a
29	MAZ	chr11:46367786-46370048	IMR90	lung:	n/a	n/a
30	RCOR1	chr11:46368458-46369076	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:46368459-46369438	HUVEC	blood vessel:	n/a	n/a
32	MXI1	chr11:46367959-46369982	IMR90	lung:	n/a	n/a
33	CTCF	chr11:46368449-46369286	SK-N-SH	brain:	n/a	chr11:46368902-46368915 chr11:46368900-46368916 chr11:46368902-46368915 chr11:46368899-46368917
34	ZNF263	chr11:46368268-46369077	HEK293-T-REx	kidney:	n/a	n/a
35	BCL3	chr11:46368317-46369053	GM12878	blood:	n/a	chr11:46368999-46369012 chr11:46368963-46368976 chr11:46368886-46368899 chr11:46369027-46369040 chr11:46369000-46369013 chr11:46369026-46369035 chr11:46368913-46368926 chr11:46369028-46369041 chr11:46368952-46368965
36	ZEB1	chr11:46368520-46369195	GM12878	blood:	n/a	n/a
37	IRF1	chr11:46368487-46369097	K562	blood:	n/a	chr11:46368837-46368851 chr11:46368853-46368867
38	MAZ	chr11:46368330-46369123	GM12878	blood:	n/a	n/a
39	HCFC1	chr11:46368071-46370215	Hela-S3	cervix:	n/a	n/a
40	RELA	chr11:46367936-46369041	GM18951	blood:	n/a	n/a
41	POLR2A	chr11:46368528-46369285	HCT-116	colon:	n/a	n/a
42	POLR2A	chr11:46368522-46369290	NB4	blood:	n/a	n/a
43	POLR2A	chr11:46368460-46368870	U87	brain:	n/a	n/a
44	MXI1	chr11:46367989-46370258	SK-N-SH	brain:	n/a	n/a
45	EBF1	chr11:46368519-46369190	GM12878	blood:	n/a	chr11:46368580-46368589 chr11:46368579-46368589
46	ZNF143	chr11:46368509-46369098	H1-hESC	embryonic stem cell:	n/a	n/a
47	SMC3	chr11:46368492-46369334	SK-N-SH	brain:	n/a	chr11:46368901-46368915
48	POLR2A	chr11:46368549-46369582	GM12892	blood:	n/a	n/a
49	BACH1	chr11:46368551-46368623	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3AK20	chr11:46368554-46368934	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
2	chr11:46367411..46370383-chr11:46395468..46399934,4	K562	blood:
3	chr11:46315131..46316685-chr11:46368074..46370322,2	MCF-7	breast:
4	chr11:45938612..45941036-chr11:46368136..46369719,2	K562	blood:
5	chr11:46329128..46331454-chr11:46367037..46368744,2	K562	blood:
6	chr11:46334621..46337409-chr11:46368237..46370460,2	MCF-7	breast:
7	chr11:46368530..46369310-chr11:46388882..46389582,3	K562	blood:
8	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
9	chr11:46358868..46360794-chr11:46368407..46370505,3	MCF-7	breast:
10	chr11:46368370..46369020-chr15:50978346..50979082,2	NB4	blood:
11	chr11:46364302..46366934-chr11:46366940..46368898,2	K562	blood:
12	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:
13	chr11:46297734..46300090-chr11:46368350..46370437,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000157613	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000092439	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10128629	1.00[ASN][1000 genomes]
rs10734539	1.00[ASN][1000 genomes]
rs10734540	1.00[ASN][1000 genomes]
rs10838563	1.00[ASN][1000 genomes]
rs11038827	1.00[ASN][1000 genomes]
rs12292649	1.00[ASN][1000 genomes]
rs1490082	1.00[ASN][1000 genomes]
rs2130473	1.00[ASN][1000 genomes]
rs28668543	1.00[ASN][1000 genomes]
rs4237661	1.00[ASN][1000 genomes]
rs4281461	1.00[ASN][1000 genomes]
rs4756056	1.00[ASN][1000 genomes]
rs4756057	1.00[ASN][1000 genomes]
rs4756058	1.00[ASN][1000 genomes]
rs4756059	1.00[ASN][1000 genomes]
rs56288505	1.00[ASN][1000 genomes]
rs61882686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882704	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882744	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61882755	1.00[ASN][1000 genomes]
rs61884152	1.00[ASN][1000 genomes]
rs7106689	1.00[ASN][1000 genomes]
rs7111900	1.00[ASN][1000 genomes]
rs7125387	1.00[ASN][1000 genomes]
rs7924996	1.00[ASN][1000 genomes]
rs7942246	1.00[ASN][1000 genomes]
rs7943416	1.00[ASN][1000 genomes]
rs7946524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46362000-46368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:46363200-46368600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46364000-46369000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46365400-46368600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:46365600-46368600	Weak transcription	Ovary	ovary
6	chr11:46366200-46369200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:46366400-46368600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:46366400-46368600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr11:46366400-46368600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:46366400-46368800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:46366400-46368800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:46366400-46368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:46366400-46368800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr11:46366400-46368800	Flanking Active TSS	HMEC	breast
20	chr11:46366400-46368800	Flanking Active TSS	NHEK	skin
21	chr11:46366400-46369600	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:46366600-46368600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr11:46366600-46368800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:46366600-46368800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr11:46366600-46368800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:46366600-46368800	Flanking Active TSS	Placenta	Placenta
27	chr11:46366600-46368800	Flanking Active TSS	Fetal Thymus	thymus
28	chr11:46366600-46368800	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:46366600-46368800	Flanking Active TSS	HUVEC	blood vessel
30	chr11:46366600-46369600	Active TSS	Psoas Muscle	Psoas
31	chr11:46366800-46368600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:46366800-46368800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:46366800-46368800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:46367000-46368600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr11:46367000-46368800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:46367000-46368800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:46367000-46368800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:46367000-46368800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr11:46367000-46368800	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr11:46367000-46369400	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr11:46367000-46369600	Active TSS	Liver	Liver
42	chr11:46367200-46368800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr11:46367200-46370000	Active TSS	Fetal Kidney	kidney
44	chr11:46367400-46368600	Weak transcription	Fetal Intestine Large	intestine
45	chr11:46367400-46368800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:46367600-46368800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr11:46367600-46368800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:46367600-46368800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:46367600-46368800	Flanking Active TSS	Thymus	Thymus
50	chr11:46367800-46368800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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