Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:185309831..185311372-chr1:185318119..185320699,2	MCF-7	breast:
2	chr1:185273553..185276208-chr1:185318687..185321590,2	K562	blood:
3	chr1:185285776..185288513-chr1:185317711..185319706,2	K562	blood:
4	chr1:185283733..185285493-chr1:185317174..185319421,2	K562	blood:
5	chr1:185285450..185286990-chr1:185317483..185319054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10157232	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10158623	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10174	0.88[EUR][1000 genomes]
rs10752948	0.97[ASN][1000 genomes]
rs10911702	0.89[EUR][1000 genomes]
rs10911704	0.92[EUR][1000 genomes]
rs10911707	0.82[EUR][1000 genomes]
rs10911708	0.94[EUR][1000 genomes]
rs12026391	0.89[EUR][1000 genomes]
rs17641003	0.92[EUR][1000 genomes]
rs2207518	0.86[ASN][1000 genomes]
rs2207519	0.86[ASN][1000 genomes]
rs2224027	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281416	0.84[EUR][1000 genomes]
rs2378909	0.81[EUR][1000 genomes]
rs2378910	0.81[EUR][1000 genomes]
rs6656019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665186	0.86[ASN][1000 genomes]
rs66845254	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6685627	0.81[EUR][1000 genomes]
rs6687774	0.84[EUR][1000 genomes]
rs6689206	0.85[ASN][1000 genomes]
rs7123	0.85[EUR][1000 genomes]
rs726567	0.92[EUR][1000 genomes]
rs7512337	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7531487	0.92[EUR][1000 genomes]
rs7545878	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7548599	0.86[ASN][1000 genomes]
rs883753	0.81[EUR][1000 genomes]
rs997283	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12044943	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185313800-185327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:185315600-185319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:185317400-185321000	Enhancers	Fetal Intestine Large	intestine
4	chr1:185317400-185321200	Enhancers	Fetal Intestine Small	intestine
5	chr1:185317600-185329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:185318200-185319800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:185318200-185320200	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:185318400-185319600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:185318400-185319600	Enhancers	Stomach Mucosa	stomach
10	chr1:185318400-185322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:185318600-185319000	Flanking Active TSS	HepG2	liver
12	chr1:185318600-185319600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:185318600-185319600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:185318600-185319800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:185318600-185321400	Enhancers	NHEK	skin
16	chr1:185318600-185321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:185318800-185319600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:185318800-185319600	Enhancers	Fetal Kidney	kidney
19	chr1:185318800-185319600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:185318800-185319600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr1:185318800-185319600	Enhancers	HMEC	breast

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