Variant report

Variant	rs7934862
Chromosome Location	chr11:75479864-75479865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:387)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:75479365-75479974	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:75479204-75479991	SK-N-MC	brain:	n/a	n/a
3	CTCF	chr11:75479780-75479930	A549	lung:	n/a	n/a
4	CTCF	chr11:75479780-75479930	Caco-2	colon:	n/a	n/a
5	RELA	chr11:75479092-75479901	GM19099	blood:	n/a	n/a
6	IRF1	chr11:75479003-75479902	K562	blood:	n/a	n/a
7	CTCF	chr11:75479800-75479950	GM12869	blood:	n/a	n/a
8	HMGN3	chr11:75479381-75480106	K562	blood:	n/a	n/a
9	CTCF	chr11:75479771-75479950	LNCaP	prostate:	n/a	n/a
10	JUND	chr11:75478944-75479990	K562	blood:	n/a	n/a
11	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
12	MAX	chr11:75479212-75479957	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
13	TRIM28	chr11:75479037-75479992	K562	blood:	n/a	n/a
14	MAZ	chr11:75479170-75479983	GM12878	blood:	n/a	chr11:75479489-75479504
15	CEBPB	chr11:75479163-75480018	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr11:75478964-75479999	K562	blood:	n/a	chr11:75479489-75479504
17	SETDB1	chr11:75479002-75479906	U2OS	brain:	n/a	n/a
18	CREB1	chr11:75479143-75480055	GM12878	blood:	n/a	n/a
19	CTCF	chr11:75479780-75479930	GM12878	blood:	n/a	n/a
20	SMC3	chr11:75478967-75479996	Hela-S3	cervix:	n/a	n/a
21	EP300	chr11:75478963-75479944	K562	blood:	n/a	chr11:75479879-75479888 chr11:75479731-75479740
22	POLR2A	chr11:75479276-75480076	HepG2	liver:	n/a	n/a
23	CTCF	chr11:75479780-75479930	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr11:75479665-75479970	HepG2	liver:	n/a	n/a
25	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
26	CTCF	chr11:75479773-75479929	Spleen_OC	spleen:	n/a	n/a
27	FOXM1	chr11:75479235-75480090	GM12878	blood:	n/a	n/a
28	GATA1	chr11:75479043-75480138	PBDE	blood:	n/a	n/a
29	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
30	CTBP2	chr11:75479377-75480657	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:75479760-75479910	GM12864	blood:	n/a	n/a
32	KAP1	chr11:75479102-75479897	HEK293	kidney:	n/a	n/a
33	ELK1	chr11:75479535-75479992	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr11:75479253-75480012	K562	blood:	n/a	n/a
35	MAX	chr11:75479001-75480076	MCF-7	breast:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
36	CTCF	chr11:75479800-75479950	AG04449	skin:	n/a	n/a
37	CTCF	chr11:75479800-75479950	GM12871	blood:	n/a	n/a
38	POLR2A	chr11:75479100-75480118	GM12878	blood:	n/a	n/a
39	MYC	chr11:75478914-75479991	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
40	BHLHE40	chr11:75479298-75479916	A549	lung:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
41	TCF7L2	chr11:75479032-75480033	HCT-116	colon:	n/a	n/a
42	ZNF384	chr11:75479771-75479891	K562	blood:	n/a	n/a
43	CTCF	chr11:75479760-75479910	HBMEC	blood vessel:	n/a	n/a
44	JUND	chr11:75479308-75479967	A549	lung:	n/a	n/a
45	CTCFL	chr11:75479653-75480020	K562	blood:	n/a	n/a
46	CBX3	chr11:75479652-75479954	K562	blood:	n/a	n/a
47	ZEB1	chr11:75479347-75480088	GM12878	blood:	n/a	chr11:75479701-75479710
48	CTCF	chr11:75479720-75479870	A549	lung:	n/a	n/a
49	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
50	RCOR1	chr11:75478950-75479941	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75479825-75479875	HNPCEpiC	eye:	n/a
2	chr11:75479827-75479877	GM06990	blood:	n/a
3	chr11:75479825-75479875	A549	lung:	n/a
4	chr11:75479825-75479875	GM12891	blood:	n/a
5	chr11:75479827-75479877	HRE	kidney:	n/a
6	chr11:75479827-75479877	HCF	heart:	n/a
7	chr11:75479825-75479875	BE2_C	brain:	n/a
8	chr11:75479827-75479877	HUVEC	blood vessel:	n/a
9	chr11:75479825-75479875	PANC-1	pancreas:	n/a
10	chr11:75479825-75479875	SK-N-SH	brain:	n/a
11	chr11:75479827-75479877	U87	brain:	n/a
12	chr11:75479825-75479875	AG04450	lung:	fetal
13	chr11:75479827-75479877	HCM	heart:	n/a
14	chr11:75479827-75479877	MCF10A-Er-Src	breast:	n/a
15	chr11:75479827-75479877	AoSMC	blood vessel:	n/a
16	chr11:75479825-75479875	AoSMC	blood vessel:	n/a
17	chr11:75479825-75479875	NT2-D1	testis:	n/a
18	chr11:75479825-75479875	MCF10A-Er-Src	breast:	n/a
19	chr11:75479825-75479875	GM06990	blood:	n/a
20	chr11:75479827-75479877	SK-N-SH_RA	brain:	n/a
21	chr11:75479827-75479877	NT2-D1	testis:	n/a
22	chr11:75479825-75479875	K562	blood:	n/a
23	chr11:75479825-75479875	Jurkat	blood:	n/a
24	chr11:75479827-75479877	SKMC	muscle:	n/a
25	chr11:75479825-75479875	GM12878	blood:	n/a
26	chr11:75479827-75479877	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:75479825-75479875	ovcar-3	ovarian:	n/a
28	chr11:75479825-75479875	HepG2	liver:	n/a
29	chr11:75479825-75479875	SAEC	small airway:	n/a
30	chr11:75479827-75479877	HEEpiC	esophagus:	n/a
31	chr11:75479827-75479877	PrEC	prostate:	n/a
32	chr11:75479827-75479877	Hela-S3	cervix:	n/a
33	chr11:75479825-75479875	GM12892	blood:	n/a
34	chr11:75479825-75479875	LNCaP	prostate:	n/a
35	chr11:75479827-75479877	Jurkat	blood:	n/a
36	chr11:75479825-75479875	HRE	kidney:	n/a
37	chr11:75479825-75479875	MCF-7	breast:	n/a
38	chr11:75479825-75479875	HRCEpiC	kidney:	n/a
39	chr11:75479827-75479877	ovcar-3	ovarian:	n/a
40	chr11:75479827-75479877	NH-A	brain:	n/a
41	chr11:75479825-75479875	SK-N-SH_RA	brain:	n/a
42	chr11:75479825-75479875	GM19239	blood:	n/a
43	chr11:75479827-75479877	BJ	skin:	n/a
44	chr11:75479827-75479877	AG04449	skin:	fetal
45	chr11:75479827-75479877	PFSK-1	brain:	n/a
46	chr11:75479827-75479877	GM12892	blood:	n/a
47	chr11:75479825-75479875	HCF	heart:	n/a
48	chr11:75479827-75479877	MCF-7	breast:	n/a
49	chr11:75479825-75479875	CMK	blood:	n/a
50	chr11:75479827-75479877	A549	lung:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
2	chr11:75479283..75479917-chr20:5100199..5101145,2	NB4	blood:
3	chr11:75479690..75481343-chr11:75485366..75487526,2	K562	blood:
4	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
5	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOGAT2-3	chr11:75479844-75480157	NONHSAT023128

No data

Variant related genes	Relation type
ENSG00000247867	TF binding region
DGAT2	TF binding region
ENSG00000247867	CpG island
DGAT2	CpG island
ENSG00000254814	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000132646	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000254826	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12279237	1.00[CEU][hapmap]
rs12279369	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12283986	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12284314	1.00[CEU][hapmap]
rs1458834	1.00[CEU][hapmap]
rs17134361	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134375	1.00[EUR][1000 genomes]
rs2371370	1.00[EUR][1000 genomes]
rs2371373	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34113941	1.00[EUR][1000 genomes]
rs3862806	1.00[EUR][1000 genomes]
rs55740367	1.00[EUR][1000 genomes]
rs56216135	1.00[EUR][1000 genomes]
rs56230849	1.00[EUR][1000 genomes]
rs56280826	1.00[EUR][1000 genomes]
rs57081953	1.00[EUR][1000 genomes]
rs58443332	1.00[EUR][1000 genomes]
rs58509556	1.00[EUR][1000 genomes]
rs60606258	1.00[EUR][1000 genomes]
rs7102067	1.00[EUR][1000 genomes]
rs7102544	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7105260	1.00[EUR][1000 genomes]
rs7106322	1.00[EUR][1000 genomes]
rs7113952	0.82[YRI][hapmap]
rs7115978	1.00[EUR][1000 genomes]
rs7118055	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7121639	1.00[CEU][hapmap]
rs7122276	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7122386	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7122695	1.00[EUR][1000 genomes]
rs7125495	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7131141	1.00[EUR][1000 genomes]
rs73491729	1.00[EUR][1000 genomes]
rs73491733	1.00[EUR][1000 genomes]
rs73491734	1.00[EUR][1000 genomes]
rs73491737	1.00[EUR][1000 genomes]
rs73491741	1.00[EUR][1000 genomes]
rs73504544	1.00[EUR][1000 genomes]
rs7928366	1.00[EUR][1000 genomes]
rs7933028	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7934683	1.00[EUR][1000 genomes]
rs7934895	1.00[EUR][1000 genomes]
rs7937098	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7939174	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7948380	1.00[EUR][1000 genomes]
rs7948526	1.00[EUR][1000 genomes]
rs7948641	1.00[EUR][1000 genomes]
rs7949863	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360811	chr11:75478729-75481277	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
2	chr11:75478400-75480000	Enhancers	Lung	lung
3	chr11:75479000-75480200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
5	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
6	chr11:75479000-75480400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr11:75479000-75480400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:75479000-75480600	Flanking Active TSS	Hela-S3	cervix
11	chr11:75479000-75480800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:75479000-75480800	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr11:75479000-75482600	Flanking Active TSS	Liver	Liver
14	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:75479200-75480200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:75479200-75480200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
18	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:75479200-75480200	Active TSS	Psoas Muscle	Psoas
22	chr11:75479200-75480400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:75479200-75480400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:75479200-75480400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:75479200-75480400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:75479200-75480600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:75479200-75481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:75479400-75480000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr11:75479400-75480000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:75479400-75480000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:75479400-75480000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:75479400-75480000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:75479400-75480000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:75479400-75480000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:75479400-75480000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:75479400-75480000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:75479400-75480000	Active TSS	Left Ventricle	heart
40	chr11:75479400-75480000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr11:75479400-75480000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:75479400-75480000	Active TSS	A549	lung
43	chr11:75479400-75480000	Active TSS	HepG2	liver
44	chr11:75479400-75480000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
45	chr11:75479400-75480000	Bivalent/Poised TSS	NHLF	lung
46	chr11:75479400-75480200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:75479400-75480200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:75479400-75480200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:75479400-75480200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:75479400-75480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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