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	chr1:185319451..185321457-chr1:185323668..185326543,2	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10157996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10752948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10911706	0.93[EUR][1000 genomes]
rs10911711	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2207517	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2207518	0.91[EUR][1000 genomes]
rs2207519	0.91[EUR][1000 genomes]
rs2295212	0.93[EUR][1000 genomes]
rs4651253	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6424975	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6424976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6665186	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6679327	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6682074	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689206	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7519628	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548599	0.90[EUR][1000 genomes]
rs9988622	0.92[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
rs10737258	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 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	chr1:185317400-185321000	Enhancers	Fetal Intestine Large	intestine
3	chr1:185317400-185321200	Enhancers	Fetal Intestine Small	intestine
4	chr1:185317600-185329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:185318400-185322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:185318600-185321400	Enhancers	NHEK	skin
7	chr1:185318600-185321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:185319000-185321200	Enhancers	HepG2	liver
9	chr1:185319400-185320600	Enhancers	Liver	Liver
10	chr1:185319600-185320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:185319600-185320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:185319600-185320600	Weak transcription	Stomach Mucosa	stomach
13	chr1:185319600-185321400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:185319600-185323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:185319600-185324400	Weak transcription	Fetal Kidney	kidney
16	chr1:185319600-185330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:185319600-185335600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:185320200-185321200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:185320400-185321000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:185320400-185322000	Enhancers	Fetal Heart	heart

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