Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:63070811..63072725-chr17:63082554..63084215,2	MCF-7	breast:
2	chr17:63051800..63054253-chr17:63080955..63083663,2	MCF-7	breast:
3	chr17:63081890..63083799-chr17:63086574..63090011,3	MCF-7	breast:
4	chr17:63078642..63080403-chr17:63080916..63084692,3	MCF-7	breast:
5	chr17:63076479..63078721-chr17:63081517..63084623,3	K562	blood:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12451996	0.84[ASN][1000 genomes]
rs28674819	0.80[ASN][1000 genomes]
rs28698781	0.92[ASN][1000 genomes]
rs4791237	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61250994	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504275	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076603	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63079400-63083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:63081600-63084800	Enhancers	Fetal Intestine Small	intestine
3	chr17:63081600-63085200	Enhancers	Duodenum Mucosa	Duodenum
4	chr17:63081600-63085200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:63082000-63084000	Weak transcription	A549	lung
6	chr17:63082000-63084600	Enhancers	Fetal Intestine Large	intestine
7	chr17:63082000-63084800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr17:63082200-63083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:63082200-63088400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:63082400-63083800	Weak transcription	Placenta	Placenta
12	chr17:63082400-63083800	Weak transcription	Pancreas	Pancrea
13	chr17:63082400-63083800	Weak transcription	HepG2	liver
14	chr17:63082400-63084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:63082400-63087200	Weak transcription	Right Atrium	heart
16	chr17:63082600-63084000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:63082800-63085000	Weak transcription	Adipose Nuclei	Adipose
18	chr17:63082800-63095400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:63082800-63095400	Weak transcription	Small Intestine	intestine
20	chr17:63083400-63083800	Weak transcription	Stomach Mucosa	stomach

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