Variant report

Variant	rs59688287
Chromosome Location	chr1:184404602-184404603
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	chr1:184355831..184357854-chr1:184403714..184405502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction
ENSG00000116667	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10911597	0.97[EUR][1000 genomes]
rs11799574	0.94[EUR][1000 genomes]
rs12128343	0.94[EUR][1000 genomes]
rs12128424	0.97[EUR][1000 genomes]
rs12129504	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12130008	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12131730	0.82[AFR][1000 genomes]
rs12135850	0.94[EUR][1000 genomes]
rs12136470	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12138263	0.94[EUR][1000 genomes]
rs12142338	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12142568	0.94[EUR][1000 genomes]
rs12142676	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12145326	0.94[EUR][1000 genomes]
rs13374592	0.82[AFR][1000 genomes]
rs16823133	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2224029	0.94[EUR][1000 genomes]
rs56173711	0.82[AFR][1000 genomes]
rs60650088	0.86[AFR][1000 genomes]
rs73063509	0.94[EUR][1000 genomes]
rs74131663	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74131671	0.94[EUR][1000 genomes]
rs74131672	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74131673	0.97[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
2	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:184392200-184408200	Weak transcription	Esophagus	oesophagus
4	chr1:184395000-184405600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:184395200-184405000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:184395400-184408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:184395800-184405600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:184396000-184412800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:184396200-184412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:184396200-184418800	Weak transcription	NHEK	skin
11	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
13	chr1:184396800-184404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:184398400-184405000	Weak transcription	Right Ventricle	heart
15	chr1:184398400-184405200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:184398400-184410200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:184398600-184411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:184400400-184412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:184402200-184405600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:184402400-184406600	Weak transcription	Pancreas	Pancrea
22	chr1:184402600-184405000	Weak transcription	Psoas Muscle	Psoas
23	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:184403400-184409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:184403600-184405400	Weak transcription	Stomach Mucosa	stomach
27	chr1:184403800-184406400	Weak transcription	Right Atrium	heart
28	chr1:184403800-184411400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:184404200-184407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:184404600-184404800	Enhancers	Left Ventricle	heart
31	chr1:184404600-184405800	Enhancers	Lung	lung
32	chr1:184404600-184406200	Enhancers	Duodenum Mucosa	Duodenum

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