Variant report

Variant	rs56992198
Chromosome Location	chr2:73334994-73334995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73324567..73327091-chr2:73333626..73336364,2	MCF-7	breast:
2	chr2:73332810..73335767-chr2:73335850..73338360,4	K562	blood:
3	chr2:73333784..73336405-chr21:43762109..43763730,2	MCF-7	breast:
4	chr2:73330344..73333243-chr2:73334640..73337340,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1046183	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13404068	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2421099	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56931614	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57875548	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58469852	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58617186	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58649746	0.94[ASN][1000 genomes]
rs58659495	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59108557	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59802755	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60341789	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61061024	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61652727	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147756	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6716846	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67421457	0.86[AMR][1000 genomes];0.98[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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:73327000-73338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73329400-73338200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:73329600-73337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73329800-73337800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73330400-73337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:73330400-73337400	Weak transcription	Fetal Lung	lung
10	chr2:73330600-73337800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:73330800-73335400	Strong transcription	Fetal Intestine Small	intestine
12	chr2:73330800-73336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:73330800-73337800	Enhancers	Placenta	Placenta
14	chr2:73330800-73338200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:73331200-73336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:73331200-73337000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:73331200-73337600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:73331200-73337600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:73331400-73337200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:73332200-73335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:73332200-73336400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:73332400-73335400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73332400-73337600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:73332600-73335400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:73332800-73335200	Enhancers	Esophagus	oesophagus
26	chr2:73332800-73335800	Enhancers	Right Ventricle	heart
27	chr2:73332800-73336000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:73332800-73337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73332800-73337400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:73333000-73335400	Enhancers	Osteobl	bone
31	chr2:73333000-73335600	Enhancers	NHLF	lung
32	chr2:73333000-73335800	Enhancers	HSMM	muscle
33	chr2:73333000-73335800	Genic enhancers	NHEK	skin
34	chr2:73333200-73335800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:73333200-73335800	Enhancers	Spleen	Spleen
36	chr2:73333400-73335600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:73333600-73336000	Enhancers	Fetal Muscle Leg	muscle
38	chr2:73333800-73335200	Enhancers	Adipose Nuclei	Adipose
39	chr2:73333800-73335200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr2:73333800-73335400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:73333800-73335800	Enhancers	Fetal Heart	heart
42	chr2:73333800-73335800	Enhancers	Pancreas	Pancrea
43	chr2:73333800-73335800	Enhancers	HSMMtube	muscle
44	chr2:73333800-73337800	Enhancers	HepG2	liver
45	chr2:73334000-73335200	Enhancers	Colon Smooth Muscle	Colon
46	chr2:73334000-73335200	Enhancers	Left Ventricle	heart
47	chr2:73334000-73335400	Enhancers	Lung	lung
48	chr2:73334000-73335600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:73334000-73335800	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:73334000-73335800	Enhancers	NH-A	brain

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