Variant report

Variant	rs45558531
Chromosome Location	chr6:35435602-35435603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:35435572-35437977	IMR90	lung:	n/a	n/a
2	RFX5	chr6:35435573-35436381	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:35435014-35442921	PFSK-1	brain:	n/a	n/a
4	TBL1XR1	chr6:35435467-35436401	K562	blood:	n/a	n/a
5	TEAD4	chr6:35435457-35436866	K562	blood:	n/a	n/a
6	MAX	chr6:35435497-35437007	MCF-7	breast:	n/a	n/a
7	GATA2	chr6:35435567-35436341	K562	blood:	n/a	n/a
8	RCOR1	chr6:35435563-35436399	K562	blood:	n/a	n/a
9	MTA3	chr6:35435495-35436795	GM12878	blood:	n/a	n/a
10	NR2F2	chr6:35435137-35437122	K562	blood:	n/a	n/a
11	MAZ	chr6:35435353-35437254	K562	blood:	n/a	chr6:35435358-35435368
12	RAD21	chr6:35435470-35436649	HCT-116	colon:	n/a	n/a
13	SPI1	chr6:35435593-35435776	K562	blood:	n/a	n/a
14	E2F6	chr6:35435592-35436609	H1-hESC	embryonic stem cell:	n/a	chr6:35436022-35436031 chr6:35436158-35436167
15	POLR2A	chr6:35435158-35444051	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:35435364-35436809	K562	blood:	n/a	n/a
17	MYC	chr6:35435556-35437006	K562	blood:	n/a	n/a
18	BHLHE40	chr6:35435377-35436695	K562	blood:	n/a	chr6:35435946-35435962
19	FOXM1	chr6:35435462-35436777	GM12878	blood:	n/a	n/a
20	WRNIP1	chr6:35435549-35436790	GM12878	blood:	n/a	n/a
21	GATA3	chr6:35435383-35436877	MCF-7	breast:	n/a	chr6:35435401-35435410 chr6:35435398-35435407
22	MYC	chr6:35435565-35437173	K562	blood:	n/a	n/a
23	MBD4	chr6:35435386-35438442	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:35435432-35442491	K562	blood:	n/a	n/a
25	TBL1XR1	chr6:35435546-35436746	K562	blood:	n/a	n/a
26	MAX	chr6:35435483-35437250	HepG2	liver:	n/a	n/a
27	PML	chr6:35435243-35436795	K562	blood:	n/a	chr6:35436062-35436070
28	CTCF	chr6:35435520-35435670	HBMEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:35435534-35437000	PBDE	blood:	n/a	n/a
30	CHD2	chr6:35435452-35436850	GM12878	blood:	n/a	chr6:35435816-35435826 chr6:35436131-35436140
31	NFIC	chr6:35435567-35436618	HepG2	liver:	n/a	n/a
32	CBX3	chr6:35435229-35436888	K562	blood:	n/a	n/a
33	MAX	chr6:35435532-35437245	ECC-1	luminal epithelium:	n/a	n/a
34	STAT5A	chr6:35435516-35437880	GM12878	blood:	n/a	n/a
35	MAFK	chr6:35435602-35436656	HepG2	liver:	n/a	chr6:35435720-35435735
36	POLR2A	chr6:35435368-35443777	HepG2	liver:	n/a	n/a
37	GATA3	chr6:35435322-35436552	MCF-7	breast:	n/a	chr6:35435401-35435410 chr6:35435398-35435407
38	MAX	chr6:35435564-35436902	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr6:35435314-35436439	K562	blood:	n/a	chr6:35435400-35435408 chr6:35435399-35435409 chr6:35435398-35435410 chr6:35435399-35435409 chr6:35435399-35435409 chr6:35435401-35435412 chr6:35435399-35435409
40	CTCF	chr6:35435580-35435730	AoAF	blood vessel:	n/a	n/a
41	POLR2A	chr6:35435585-35442764	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr6:35435238-35443013	K562	blood:	n/a	n/a
43	GATA3	chr6:35435439-35436389	T-47D	breast:	n/a	n/a
44	POLR2A	chr6:35435032-35444467	SK-N-MC	brain:	n/a	n/a
45	RELA	chr6:35435584-35436423	GM10847	blood:	n/a	n/a
46	REST	chr6:35435489-35437092	H1-neurons	neurons:	n/a	chr6:35436107-35436127 chr6:35435755-35435763 chr6:35435751-35435765
47	CTCF	chr6:35435547-35436433	HCT-116	colon:	n/a	chr6:35436045-35436061 chr6:35435948-35435961 chr6:35436044-35436062
48	POLR2A	chr6:35435186-35445490	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:35435152-35443652	PANC-1	pancreas:	n/a	n/a
50	MAX	chr6:35435508-35437944	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:54366608..54368151-chr6:35435475..35437868,2	MCF-7	breast:
2	chr6:35425207..35426152-chr6:35435554..35436139,3	K562	blood:
3	chr6:35226066..35229330-chr6:35434346..35438215,4	K562	blood:
4	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
5	chr6:35410187..35412214-chr6:35434908..35436495,2	K562	blood:
6	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
7	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
8	chr6:35270811..35278072-chr6:35434777..35439344,8	MCF-7	breast:
9	chr6:35308378..35313609-chr6:35433550..35439145,12	K562	blood:
10	chr6:35309215..35314259-chr6:35432456..35439068,10	MCF-7	breast:
11	chr6:35227094..35229802-chr6:35433183..35436613,4	K562	blood:
12	chr6:35265067..35266084-chr6:35435395..35436525,11	K562	blood:
13	chr6:35435012..35436668-chr6:35752247..35755003,2	MCF-7	breast:
14	chr6:35265112..35265974-chr6:35435522..35436961,5	MCF-7	breast:
15	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
16	chr6:35309667..35310668-chr6:35435356..35436547,17	K562	blood:
17	chr11:2397606..2400001-chr6:35434655..35437647,2	K562	blood:
18	chr6:35309662..35310600-chr6:35435587..35436198,4	MCF-7	breast:
19	chr6:35434775..35437842-chr6:35701549..35705876,5	MCF-7	breast:
20	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
21	chr6:35226330..35228825-chr6:35434969..35437843,3	MCF-7	breast:
22	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
23	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
24	chr6:35433822..35437754-chr6:35703135..35706478,6	K562	blood:
25	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:

No data

Variant related genes	Relation type
RPL10A	TF binding region
ENSG00000096060	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000123388	Chromatin interaction
ENSG00000204140	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000110651	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000238184	Chromatin interaction
ENSG00000227154	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11966402	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16876572	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41270066	0.85[AFR][1000 genomes]
rs73415611	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73415612	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9658182	1.00[EUR][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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
4	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35430400-35435800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:35430800-35435800	Weak transcription	Lung	lung
3	chr6:35431800-35435800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35435200-35435800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:35435200-35435800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:35435200-35435800	Enhancers	Spleen	Spleen
7	chr6:35435200-35436000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:35435200-35436000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:35435200-35440200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:35435400-35435800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:35435400-35435800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:35435400-35435800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr6:35435400-35435800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr6:35435400-35435800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:35435400-35435800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:35435400-35435800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:35435400-35435800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr6:35435400-35435800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:35435400-35435800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:35435400-35435800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:35435400-35435800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:35435400-35435800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:35435400-35435800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:35435400-35435800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr6:35435400-35435800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr6:35435400-35435800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:35435400-35435800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:35435400-35435800	Flanking Active TSS	Fetal Kidney	kidney
29	chr6:35435400-35435800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:35435400-35435800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:35435400-35435800	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:35435400-35435800	Flanking Active TSS	Hela-S3	cervix
33	chr6:35435400-35435800	Transcr. at gene 5' and 3'	K562	blood
34	chr6:35435400-35435800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:35435400-35436000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr6:35435400-35436000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:35435400-35436000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:35435400-35436000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:35435400-35436000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:35435400-35436000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:35435400-35436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:35435400-35436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:35435400-35436000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:35435400-35436000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr6:35435400-35436000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr6:35435400-35436000	Flanking Active TSS	Fetal Lung	lung
47	chr6:35435400-35436000	Flanking Active TSS	Fetal Thymus	thymus
48	chr6:35435400-35436000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:35435400-35436000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:35435400-35436000	Flanking Active TSS	Dnd41	blood

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