Variant report

Variant	rs6462452
Chromosome Location	chr7:33077616-33077617
allele	C/T
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	chr7:33077412-33077643	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:33077568..33080779-chr7:33084217..33087221,3	MCF-7	breast:
2	chr7:33076344..33077895-chr7:33100878..33103670,2	MCF-7	breast:
3	chr7:33077269..33080476-chr7:33081522..33083915,3	K562	blood:
4	chr7:33071348..33074142-chr7:33076971..33078874,2	K562	blood:

Variant related genes	Relation type
ENSG00000229054	TF binding region
NT5C3A	TF binding region
ENSG00000241420	Chromatin interaction
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6462457	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6953386	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6954660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964996	1.00[AMR][1000 genomes]
rs72555717	1.00[AMR][1000 genomes]
rs72555741	1.00[AMR][1000 genomes]
rs7788623	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7809021	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
2	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
3	chr7:33052400-33078200	Weak transcription	Fetal Heart	heart
4	chr7:33055200-33078200	Weak transcription	NHEK	skin
5	chr7:33055200-33078400	Weak transcription	HMEC	breast
6	chr7:33055200-33083200	Weak transcription	Fetal Brain Female	brain
7	chr7:33056200-33080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:33056200-33083200	Weak transcription	Gastric	stomach
9	chr7:33056200-33083200	Weak transcription	Pancreas	Pancrea
10	chr7:33056800-33078800	Weak transcription	Fetal Kidney	kidney
11	chr7:33057600-33079200	Weak transcription	Placenta	Placenta
12	chr7:33057800-33078400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:33060600-33078400	Weak transcription	Ovary	ovary
14	chr7:33062400-33084000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:33062800-33079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:33064200-33078000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:33065600-33077800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:33066200-33101600	Weak transcription	Lung	lung
19	chr7:33066400-33078400	Weak transcription	Fetal Thymus	thymus
20	chr7:33066600-33079000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:33066800-33100800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:33067000-33078200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:33067000-33078200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:33067000-33079000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:33067000-33079600	Weak transcription	Left Ventricle	heart
26	chr7:33069200-33078400	Weak transcription	Fetal Lung	lung
27	chr7:33069600-33077800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:33069600-33078400	Weak transcription	Aorta	Aorta
29	chr7:33069600-33083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:33069800-33077800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:33069800-33078200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:33069800-33078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:33069800-33078800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:33070000-33077800	Weak transcription	Primary T cells from cord blood	blood
35	chr7:33070000-33078400	Weak transcription	Thymus	Thymus
36	chr7:33070000-33079600	Weak transcription	K562	blood
37	chr7:33070200-33077800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:33070400-33078000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:33071200-33078400	Weak transcription	Fetal Intestine Large	intestine
40	chr7:33071200-33099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:33072400-33079000	Weak transcription	Fetal Stomach	stomach
42	chr7:33074000-33078200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:33074400-33078400	Weak transcription	Dnd41	blood
44	chr7:33074400-33079000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:33074600-33078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:33074800-33077800	Weak transcription	HepG2	liver
47	chr7:33074800-33078200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:33074800-33078600	Weak transcription	Osteobl	bone
49	chr7:33074800-33079000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:33075000-33079000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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