Variant report

Variant	rs57875548
Chromosome Location	chr2:73324393-73324394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73320586..73325143-chr2:73325606..73330308,7	K562	blood:
2	chr2:73321656..73324414-chr2:73324555..73326747,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046183	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13404068	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2421099	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56931614	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56992198	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58469852	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58617186	0.82[ASN][1000 genomes]
rs58649746	0.88[ASN][1000 genomes]
rs58659495	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59108557	0.80[AMR][1000 genomes]
rs59802755	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60341789	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61652727	0.84[AMR][1000 genomes]
rs62147756	0.82[AMR][1000 genomes]
rs6716846	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67421457	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73313200-73327200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:73316000-73326600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:73316400-73329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:73316400-73329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
11	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:73317600-73327000	Weak transcription	Fetal Stomach	stomach
13	chr2:73317600-73328600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:73318400-73328200	Weak transcription	NHLF	lung
15	chr2:73318400-73331800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:73318600-73334400	Weak transcription	HMEC	breast
17	chr2:73318800-73326400	Weak transcription	NHEK	skin
18	chr2:73319400-73330000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:73319800-73324800	Weak transcription	Osteobl	bone
20	chr2:73320200-73324600	Weak transcription	HSMM	muscle
21	chr2:73320200-73328600	Weak transcription	NH-A	brain
22	chr2:73320200-73328800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73320200-73329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:73320200-73332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:73320600-73328400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:73320600-73329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:73320600-73332800	Weak transcription	Esophagus	oesophagus
28	chr2:73320800-73327000	Enhancers	Spleen	Spleen
29	chr2:73320800-73328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:73320800-73329600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:73320800-73332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:73320800-73334400	Weak transcription	Aorta	Aorta
33	chr2:73321000-73328800	Weak transcription	Lung	lung
34	chr2:73321000-73330200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:73321200-73324400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:73321600-73328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:73321600-73328800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:73321600-73332800	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:73321800-73330000	Weak transcription	Right Atrium	heart
40	chr2:73321800-73330200	Weak transcription	Left Ventricle	heart
41	chr2:73322400-73330200	Weak transcription	Pancreas	Pancrea
42	chr2:73322400-73334600	Weak transcription	Psoas Muscle	Psoas
43	chr2:73322600-73326000	Enhancers	HepG2	liver
44	chr2:73322600-73326600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:73322600-73328200	Weak transcription	Placenta	Placenta
46	chr2:73322600-73329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:73322800-73324800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:73322800-73326600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:73323000-73330400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:73323200-73326600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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