Variant report

Variant	rs7547545
Chromosome Location	chr1:246849886-246849887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246848698..246850576-chr1:246851787..246854723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235021	Chromatin interaction

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

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

rs_ID	r²[population]
rs13375572	1.00[AMR][1000 genomes]
rs2379094	1.00[AMR][1000 genomes]
rs35286882	1.00[AMR][1000 genomes]
rs4551565	1.00[AMR][1000 genomes]
rs4654298	1.00[AMR][1000 genomes]
rs6668331	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
5	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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	52 gene(s)	inside rSNPs	diseases
10	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246829800-246853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:246830200-246853000	Weak transcription	Fetal Brain Female	brain
3	chr1:246832400-246853000	Weak transcription	Thymus	Thymus
4	chr1:246832400-246856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:246833800-246850000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:246842400-246850800	Enhancers	Placenta	Placenta
7	chr1:246844200-246853000	Weak transcription	Left Ventricle	heart
8	chr1:246844200-246853000	Weak transcription	HUVEC	blood vessel
9	chr1:246844400-246852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:246844600-246853000	Weak transcription	Right Ventricle	heart
11	chr1:246844800-246852600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:246844800-246852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:246845400-246852800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:246845400-246853000	Weak transcription	Ovary	ovary
15	chr1:246845800-246852600	Weak transcription	Brain Substantia Nigra	brain
16	chr1:246846000-246852800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:246846200-246852600	Weak transcription	Right Atrium	heart
18	chr1:246846200-246852800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:246846200-246852800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:246846200-246852800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:246846200-246853000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:246846200-246853000	Weak transcription	Osteobl	bone
23	chr1:246846400-246851800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:246846400-246853000	Weak transcription	NHLF	lung
25	chr1:246846800-246852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:246846800-246852600	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:246847000-246852600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:246847000-246853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:246847200-246853000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:246848400-246852600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:246849800-246850000	Enhancers	Spleen	Spleen

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