Variant report

Variant	rs35085051
Chromosome Location	chr11:75480108-75480109
allele	A/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	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
2	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
3	GATA1	chr11:75479043-75480138	PBDE	blood:	n/a	n/a
4	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
5	CTBP2	chr11:75479377-75480657	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:75479100-75480118	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
8	RAD21	chr11:75478964-75480110	HepG2	liver:	n/a	chr11:75479869-75479882
9	ZBTB7A	chr11:75479247-75480548	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361
10	MAX	chr11:75479125-75480123	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
11	MAX	chr11:75479013-75480165	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
12	POLR2A	chr11:75479556-75480161	U87	brain:	n/a	n/a
13	CTCF	chr11:75478787-75480471	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
14	POLR2A	chr11:75479133-75480153	GM18505	blood:	n/a	n/a
15	TCF3	chr11:75479374-75480144	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:75479125-75480135	GM12892	blood:	n/a	n/a
17	JUND	chr11:75479067-75480179	SK-N-SH	brain:	n/a	n/a
18	HCFC1	chr11:75478850-75480400	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr11:75478923-75480198	A549	lung:	n/a	chr11:75479893-75479900 chr11:75479703-75479710
20	MAX	chr11:75478982-75480113	ECC-1	luminal epithelium:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
21	HDAC2	chr11:75479394-75480115	MCF-7	breast:	n/a	n/a
22	ZBTB7A	chr11:75479192-75480605	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361
23	CTCF	chr11:75480060-75480210	GM12869	blood:	n/a	n/a
24	POLR2A	chr11:75479057-75480322	HepG2	liver:	n/a	n/a
25	REST	chr11:75479250-75480121	H1-neurons	neurons:	n/a	chr11:75479921-75479934
26	MYBL2	chr11:75478883-75480230	HepG2	liver:	n/a	n/a
27	MAX	chr11:75479152-75480130	ECC-1	luminal epithelium:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
28	MTA3	chr11:75478796-75480416	GM12878	blood:	n/a	n/a
29	HDAC2	chr11:75479619-75480113	HepG2	liver:	n/a	n/a
30	YY1	chr11:75478999-75480118	HepG2	liver:	n/a	chr11:75479825-75479836 chr11:75479728-75479742 chr11:75479877-75479891 chr11:75479828-75479842
31	E2F6	chr11:75479190-75480204	A549	lung:	n/a	chr11:75479823-75479833
32	JUND	chr11:75479215-75480130	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:75479548-75480177	K562	blood:	n/a	n/a
34	E2F6	chr11:75479015-75480158	K562	blood:	n/a	chr11:75479823-75479833
35	CTCF	chr11:75480000-75480150	GM12864	blood:	n/a	n/a
36	MAX	chr11:75479004-75480148	A549	lung:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
37	ELF1	chr11:75479001-75480195	GM12878	blood:	n/a	chr11:75479830-75479842 chr11:75479961-75479973 chr11:75479879-75479891
38	TBL1XR1	chr11:75479429-75480145	K562	blood:	n/a	n/a
39	ZBTB7A	chr11:75479045-75480137	K562	blood:	n/a	chr11:75479110-75479119 chr11:75479350-75479361
40	POLR2A	chr11:75479073-75480168	GM12892	blood:	n/a	n/a
41	ZNF143	chr11:75479033-75480137	GM12878	blood:	n/a	chr11:75479108-75479118 chr11:75479731-75479741
42	BACH1	chr11:75480104-75480399	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:75479960-75480110	HUVEC	blood vessel:	n/a	n/a
44	SREBP1	chr11:75478648-75480145	GM12878	blood:	n/a	n/a
45	JUND	chr11:75478955-75480148	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr11:75479330-75480111	PANC-1	pancreas:	n/a	n/a
47	MAX	chr11:75478851-75480229	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
48	E2F6	chr11:75479180-75480123	H1-hESC	embryonic stem cell:	n/a	chr11:75479823-75479833
49	CREB1	chr11:75478884-75480131	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:75479035-75480140	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
2	chr11:75479690..75481343-chr11:75485366..75487526,2	K562	blood:
3	chr11:75479943..75481752-chr11:75484660..75487387,2	MCF-7	breast:
4	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
5	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

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

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10793131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2371373	1.00[MEX][hapmap]
rs7102544	1.00[MEX][hapmap]
rs7121639	1.00[MEX][hapmap]
rs7122276	1.00[MEX][hapmap]
rs7122386	1.00[MEX][hapmap]
rs7937098	1.00[MEX][hapmap]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
2	chr11:75479000-75480200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
4	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
5	chr11:75479000-75480400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr11:75479000-75480400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:75479000-75480600	Flanking Active TSS	Hela-S3	cervix
10	chr11:75479000-75480800	Bivalent Enhancer	Fetal Brain Male	brain
11	chr11:75479000-75480800	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr11:75479000-75482600	Flanking Active TSS	Liver	Liver
13	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:75479200-75480200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:75479200-75480200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
17	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:75479200-75480200	Active TSS	Psoas Muscle	Psoas
21	chr11:75479200-75480400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:75479200-75480400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:75479200-75480400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:75479200-75480400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:75479200-75480600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:75479200-75481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:75479400-75480200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:75479400-75480200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:75479400-75480200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:75479400-75480200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:75479400-75480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:75479400-75480200	Active TSS	Aorta	Aorta
35	chr11:75479400-75480200	Active TSS	Brain Substantia Nigra	brain
36	chr11:75479400-75480200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:75479400-75480200	Flanking Active TSS	Pancreas	Pancrea
38	chr11:75479400-75480200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
39	chr11:75479400-75480400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr11:75479400-75480400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:75479400-75480400	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:75479400-75480400	Active TSS	Colon Smooth Muscle	Colon
43	chr11:75479400-75480400	Active TSS	Ovary	ovary
44	chr11:75479400-75480400	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:75479400-75480600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:75479400-75480600	Active TSS	Brain Angular Gyrus	brain
47	chr11:75479400-75480600	Flanking Active TSS	Spleen	Spleen
48	chr11:75479400-75480800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:75479400-75480800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr11:75479400-75480800	Active TSS	Brain Inferior Temporal Lobe	brain

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