Variant report

Variant	rs61882678
Chromosome Location	chr11:46368241-46368242
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:46367382-46369131	NB4	blood:	n/a	n/a
2	POLR2A	chr11:46367645-46369105	HL-60	blood:	n/a	n/a
3	EBF1	chr11:46368228-46368306	GM12878	blood:	n/a	n/a
4	MTA3	chr11:46368001-46368854	GM12878	blood:	n/a	n/a
5	MAZ	chr11:46367786-46370048	IMR90	lung:	n/a	n/a
6	MXI1	chr11:46367959-46369982	IMR90	lung:	n/a	n/a
7	MAX	chr11:46366451-46368261	NB4	blood:	n/a	chr11:46366897-46366907
8	HCFC1	chr11:46368071-46370215	Hela-S3	cervix:	n/a	n/a
9	RELA	chr11:46367936-46369041	GM18951	blood:	n/a	n/a
10	MXI1	chr11:46367989-46370258	SK-N-SH	brain:	n/a	n/a
11	MYC	chr11:46368169-46368264	HUVEC	blood vessel:	n/a	n/a
12	WRNIP1	chr11:46368186-46368589	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
8	chr11:46364302..46366934-chr11:46366940..46368898,2	K562	blood:
9	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:

No data

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

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10160701	0.86[EUR][1000 genomes]
rs10838602	0.88[EUR][1000 genomes]
rs11038897	0.90[EUR][1000 genomes]
rs11038900	0.88[EUR][1000 genomes]
rs11038906	0.87[EUR][1000 genomes]
rs11038914	0.86[EUR][1000 genomes]
rs11038919	0.87[EUR][1000 genomes]
rs11038927	0.86[EUR][1000 genomes]
rs11819869	0.86[EUR][1000 genomes]
rs12272795	0.84[EUR][1000 genomes]
rs12283172	0.90[EUR][1000 genomes]
rs12292425	0.84[EUR][1000 genomes]
rs12295266	0.85[EUR][1000 genomes]
rs12573978	0.90[EUR][1000 genomes]
rs12574250	0.86[EUR][1000 genomes]
rs12574668	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12575519	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576115	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576317	0.90[EUR][1000 genomes]
rs12576359	0.88[EUR][1000 genomes]
rs12577142	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578042	0.88[EUR][1000 genomes]
rs1472001	0.88[EUR][1000 genomes]
rs1489192	0.88[EUR][1000 genomes]
rs16938506	0.90[EUR][1000 genomes]
rs2046768	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067482	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171667	0.90[EUR][1000 genomes]
rs2171668	0.90[EUR][1000 genomes]
rs2279465	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291487	0.90[EUR][1000 genomes]
rs2864072	0.90[EUR][1000 genomes]
rs2864076	0.90[EUR][1000 genomes]
rs2902858	0.88[EUR][1000 genomes]
rs34406563	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623865	0.83[EUR][1000 genomes]
rs3740974	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740977	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802888	0.88[EUR][1000 genomes]
rs3809047	0.97[ASN][1000 genomes]
rs55657382	0.83[EUR][1000 genomes]
rs55661562	0.83[EUR][1000 genomes]
rs57535407	0.90[EUR][1000 genomes]
rs58147945	0.88[EUR][1000 genomes]
rs59319338	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882674	0.90[EUR][1000 genomes]
rs61882682	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882683	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882691	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61882701	0.90[EUR][1000 genomes]
rs61882702	0.90[EUR][1000 genomes]
rs61882706	0.89[EUR][1000 genomes]
rs61882709	0.90[EUR][1000 genomes]
rs61882710	0.90[EUR][1000 genomes]
rs61882711	0.90[EUR][1000 genomes]
rs61882712	0.88[EUR][1000 genomes]
rs61882720	0.87[EUR][1000 genomes]
rs61882743	0.86[EUR][1000 genomes]
rs61882746	0.89[EUR][1000 genomes]
rs61882748	0.90[EUR][1000 genomes]
rs61882750	0.89[EUR][1000 genomes]
rs61882756	0.83[EUR][1000 genomes]
rs61882757	0.85[EUR][1000 genomes]
rs61882758	0.85[EUR][1000 genomes]
rs61884264	0.83[EUR][1000 genomes]
rs6485682	0.90[EUR][1000 genomes]
rs6485685	0.83[EUR][1000 genomes]
rs7108770	0.81[EUR][1000 genomes]
rs7112229	0.88[EUR][1000 genomes]
rs7122039	0.84[EUR][1000 genomes]
rs7125907	0.84[EUR][1000 genomes]
rs7127529	0.89[EUR][1000 genomes]
rs7130141	0.88[EUR][1000 genomes]
rs73449983	0.85[EUR][1000 genomes]
rs7481312	0.86[EUR][1000 genomes]
rs7484002	0.83[EUR][1000 genomes]
rs7924401	0.84[EUR][1000 genomes]
rs7930103	0.88[EUR][1000 genomes]
rs7936413	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946705	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7951579	0.90[EUR][1000 genomes]
rs7951870	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs876701	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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:111 , 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	chr11:46365600-46368400	Weak transcription	A549	lung
6	chr11:46365600-46368600	Weak transcription	Ovary	ovary
7	chr11:46366200-46369200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:46366400-46368400	Active TSS	Right Atrium	heart
9	chr11:46366400-46368400	Active TSS	Right Ventricle	heart
10	chr11:46366400-46368600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:46366400-46368600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr11:46366400-46368600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:46366400-46368800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:46366400-46368800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:46366400-46368800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:46366400-46368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:46366400-46368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:46366400-46368800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:46366400-46368800	Flanking Active TSS	HMEC	breast
23	chr11:46366400-46368800	Flanking Active TSS	NHEK	skin
24	chr11:46366400-46369600	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:46366600-46368600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr11:46366600-46368800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:46366600-46368800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:46366600-46368800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:46366600-46368800	Flanking Active TSS	Placenta	Placenta
30	chr11:46366600-46368800	Flanking Active TSS	Fetal Thymus	thymus
31	chr11:46366600-46368800	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:46366600-46368800	Flanking Active TSS	HUVEC	blood vessel
33	chr11:46366600-46369600	Active TSS	Psoas Muscle	Psoas
34	chr11:46366800-46368400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:46366800-46368400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:46366800-46368400	Active TSS	Left Ventricle	heart
37	chr11:46366800-46368400	Enhancers	K562	blood
38	chr11:46366800-46368600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:46366800-46368800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:46366800-46368800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:46367000-46368400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:46367000-46368400	Active TSS	Brain Hippocampus Middle	brain
43	chr11:46367000-46368400	Active TSS	Colonic Mucosa	Colon
44	chr11:46367000-46368400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:46367000-46368400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr11:46367000-46368600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:46367000-46368800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:46367000-46368800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:46367000-46368800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:46367000-46368800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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