Variant report

Variant	rs73098518
Chromosome Location	chr1:220301335-220301336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220292461..220294314-chr1:220300641..220303068,2	MCF-7	breast:
2	chr1:220292837..220298282-chr1:220298660..220304315,8	K562	blood:
3	chr1:220296550..220299024-chr1:220300584..220302127,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1039206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12031256	0.90[EUR][1000 genomes]
rs12037712	0.83[AFR][1000 genomes]
rs12045447	0.83[AFR][1000 genomes]
rs17007107	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17007139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767656	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3820455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274792	0.86[ASN][1000 genomes]
rs57463200	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs58256586	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58966246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59935950	0.81[AFR][1000 genomes]
rs60736051	0.85[AFR][1000 genomes]
rs73096563	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73096575	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73096577	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73096595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73098512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098528	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098530	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098537	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098550	0.83[AFR][1000 genomes]
rs73098551	0.83[AFR][1000 genomes]
rs73098553	0.83[AFR][1000 genomes]
rs73098579	0.81[AFR][1000 genomes]
rs874331	0.83[AFR][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220278600-220316200	Weak transcription	Pancreas	Pancrea
4	chr1:220281400-220307200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:220281400-220307800	Weak transcription	Psoas Muscle	Psoas
6	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
7	chr1:220284600-220301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:220284600-220305600	Weak transcription	Small Intestine	intestine
9	chr1:220284600-220307400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:220284600-220307800	Weak transcription	Spleen	Spleen
11	chr1:220284600-220313000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:220284600-220313600	Weak transcription	Gastric	stomach
13	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220284800-220301600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:220288400-220310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:220289400-220301600	Weak transcription	Esophagus	oesophagus
18	chr1:220289600-220301400	Weak transcription	Fetal Kidney	kidney
19	chr1:220289600-220301600	Weak transcription	Brain Substantia Nigra	brain
20	chr1:220289600-220307800	Weak transcription	Thymus	Thymus
21	chr1:220289800-220301800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:220289800-220306400	Weak transcription	NHEK	skin
23	chr1:220289800-220307400	Weak transcription	HSMMtube	muscle
24	chr1:220289800-220307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:220290400-220304600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:220290400-220307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:220290800-220307800	Weak transcription	Lung	lung
28	chr1:220291000-220301400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:220291200-220314400	Weak transcription	NH-A	brain
30	chr1:220291600-220306200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:220295200-220309000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:220295400-220310600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:220295800-220306000	Weak transcription	Aorta	Aorta
34	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
35	chr1:220296600-220323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:220297200-220304400	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:220297400-220302800	Strong transcription	Placenta	Placenta
38	chr1:220297600-220303800	Strong transcription	Dnd41	blood
39	chr1:220297600-220304400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:220297800-220303400	Strong transcription	Primary T cells from cord blood	blood
41	chr1:220297800-220304400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:220298000-220304800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:220298200-220304000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:220298200-220305800	Weak transcription	Ovary	ovary
45	chr1:220298200-220307800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:220298400-220303200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:220298400-220303800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:220298400-220307200	Weak transcription	Fetal Heart	heart
49	chr1:220298600-220303600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:220298600-220303800	Strong transcription	Primary monocytes fromperipheralblood	blood

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