Variant report

Variant	rs147515036
Chromosome Location	chr7:56127292-56127293
allele	C/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	POLR2A	chr7:56126673-56127558	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:56126345-56127371	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:56127160-56127327	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:56126862-56127837	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr7:56125587-56130729	K562	blood:	n/a	n/a
6	POLR2A	chr7:56127053-56127778	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr7:56126825-56127531	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr7:56127183-56127570	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56117578..56119708-chr7:56126304..56127920,2	MCF-7	breast:
2	chr7:56124986..56128195-chr7:56129879..56132286,4	MCF-7	breast:
3	chr7:56126631..56129395-chr7:56129953..56133299,4	MCF-7	breast:

Variant related genes	Relation type
CCT6A	TF binding region
SNORA15	TF binding region
SUMF2	TF binding region
ENSG00000146731	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146733	Chromatin interaction

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

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	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv981474	chr7:56127123-56131412	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56120200-56131200	Weak transcription	Aorta	Aorta
2	chr7:56120600-56131000	Strong transcription	Adipose Nuclei	Adipose
3	chr7:56120800-56127400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56120800-56130000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:56120800-56130400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:56120800-56130800	Strong transcription	Brain Angular Gyrus	brain
7	chr7:56120800-56131200	Strong transcription	Fetal Thymus	thymus
8	chr7:56120800-56131400	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:56120800-56131600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:56121000-56130000	Weak transcription	Stomach Mucosa	stomach
11	chr7:56121000-56130800	Strong transcription	Fetal Lung	lung
12	chr7:56121000-56131000	Strong transcription	Brain Anterior Caudate	brain
13	chr7:56121000-56131200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:56121000-56131200	Strong transcription	Brain Hippocampus Middle	brain
15	chr7:56121200-56128600	Strong transcription	HSMMtube	muscle
16	chr7:56121200-56129400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:56121200-56129400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:56121200-56129400	Strong transcription	Osteobl	bone
19	chr7:56121200-56130400	Strong transcription	Liver	Liver
20	chr7:56121200-56130600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:56121200-56130800	Strong transcription	Brain Cingulate Gyrus	brain
22	chr7:56121200-56130800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:56121200-56131200	Strong transcription	Brain Germinal Matrix	brain
24	chr7:56121200-56131200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:56121200-56131400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:56121200-56131400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:56121400-56128000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr7:56121400-56128000	Strong transcription	HSMM	muscle
29	chr7:56121400-56128400	Strong transcription	NH-A	brain
30	chr7:56121400-56129000	Genic enhancers	HepG2	liver
31	chr7:56121400-56129400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:56121400-56129800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:56121400-56130600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:56121400-56130800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr7:56121400-56130800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:56121400-56130800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr7:56121400-56131000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:56121400-56131000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:56121400-56131000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:56121400-56131200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:56121400-56131200	Strong transcription	Placenta	Placenta
42	chr7:56121400-56131200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:56121400-56131200	Genic enhancers	Dnd41	blood
44	chr7:56121400-56131400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:56121400-56131400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:56121600-56127400	Strong transcription	Fetal Intestine Large	intestine
47	chr7:56121600-56128800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:56121600-56129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:56121600-56131000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:56121600-56131000	Strong transcription	Stomach Smooth Muscle	stomach

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