Variant report

Variant	rs56183341
Chromosome Location	chr6:35705059-35705060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:35705020-35705170	HFF-Myc	foreskin:	n/a	n/a
2	RAD21	chr6:35705032-35705943	HCT-116	colon:	n/a	n/a
3	CTCF	chr6:35705020-35705170	AG04449	skin:	n/a	n/a
4	CTCF	chr6:35705020-35705170	GM12866	blood:	n/a	n/a
5	RAD21	chr6:35704697-35705924	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr6:35704940-35705090	AG09309	skin:	n/a	n/a
7	CTCF	chr6:35704715-35705974	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr6:35704860-35705918	HCT-116	colon:	n/a	n/a
9	CTCF	chr6:35704920-35705070	WERI-Rb-1	eye:	n/a	n/a
10	SMC3	chr6:35704633-35705992	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr6:35704980-35705130	GM12878	blood:	n/a	n/a
12	CTCF	chr6:35705040-35705190	GM12874	blood:	n/a	n/a
13	CTCF	chr6:35704940-35705090	SAEC	small airway:	n/a	n/a
14	CTCF	chr6:35704960-35705110	HBMEC	blood vessel:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35309893..35310744-chr6:35704999..35705946,2	K562	blood:
2	chr6:35434775..35437842-chr6:35701549..35705876,5	MCF-7	breast:
3	chr6:35551333..35552161-chr6:35705001..35705965,6	MCF-7	breast:
4	chr6:35654784..35658036-chr6:35702203..35706321,5	MCF-7	breast:
5	chr6:35511057..35513907-chr6:35704750..35707121,2	K562	blood:
6	chr6:35554171..35554825-chr6:35704991..35705599,2	K562	blood:
7	chr6:35465886..35468037-chr6:35705048..35706925,2	K562	blood:
8	chr6:35551241..35552671-chr6:35704972..35706000,16	K562	blood:
9	chr6:35490540..35491130-chr6:35705031..35706454,3	MCF-7	breast:
10	chr6:35265059..35266000-chr6:35705022..35705927,2	K562	blood:
11	chr6:35433822..35437754-chr6:35703135..35706478,6	K562	blood:
12	chr6:35654156..35657013-chr6:35704693..35707749,4	K562	blood:
13	chr6:35463384..35465009-chr6:35703029..35705389,2	K562	blood:
14	chr6:35462682..35465009-chr6:35702407..35705389,2	K562	blood:
15	chr6:35551377..35552255-chr6:35705016..35705834,3	MCF-7	breast:
16	chr6:35655179..35657311-chr6:35699143..35705251,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232909	TF binding region
ENSG00000023892	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000228559	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73729768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73729769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73729780	1.00[AMR][1000 genomes]
rs73729781	1.00[AMR][1000 genomes]
rs73729783	1.00[AMR][1000 genomes]
rs73729785	1.00[AMR][1000 genomes]
rs73731219	1.00[AMR][1000 genomes]
rs73748213	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35700200-35706000	Enhancers	Pancreas	Pancrea
2	chr6:35700400-35705400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:35700400-35706000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:35700600-35705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:35700600-35705200	Weak transcription	Fetal Kidney	kidney
6	chr6:35700600-35705400	Enhancers	Fetal Thymus	thymus
7	chr6:35700600-35705800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:35700600-35705800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:35700600-35705800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:35700600-35705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:35700600-35706000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:35700600-35706400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:35700600-35707200	Weak transcription	Fetal Intestine Small	intestine
14	chr6:35700600-35708000	Weak transcription	Fetal Brain Female	brain
15	chr6:35700800-35705200	Weak transcription	HSMMtube	muscle
16	chr6:35700800-35705600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:35700800-35707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:35700800-35710400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:35701200-35705600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:35701200-35705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:35701200-35706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:35701600-35705200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:35701600-35705200	Weak transcription	HUVEC	blood vessel
24	chr6:35701800-35705200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:35701800-35705200	Weak transcription	K562	blood
26	chr6:35701800-35707600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:35702000-35707400	Weak transcription	Liver	Liver
28	chr6:35702400-35705800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:35702600-35705400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:35702600-35705600	Enhancers	Primary T cells from cord blood	blood
31	chr6:35702800-35705600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:35703000-35705400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr6:35703000-35705800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:35703000-35706000	Enhancers	Spleen	Spleen
35	chr6:35703000-35707800	Weak transcription	Stomach Mucosa	stomach
36	chr6:35703200-35705800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:35703200-35705800	Enhancers	Stomach Smooth Muscle	stomach
38	chr6:35703200-35706000	Enhancers	Lung	lung
39	chr6:35703400-35705800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:35703600-35705400	Enhancers	Primary B cells from cord blood	blood
41	chr6:35703600-35705400	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:35703800-35705800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:35703800-35706400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:35703800-35707400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:35704000-35705800	Enhancers	Fetal Heart	heart
46	chr6:35704000-35705800	Enhancers	Right Ventricle	heart
47	chr6:35704200-35705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:35704200-35705200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:35704200-35705200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:35704200-35705200	Weak transcription	Brain Hippocampus Middle	brain

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