Variant report

Variant	rs73098530
Chromosome Location	chr1:220315660-220315661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220310677..220312187-chr1:220315389..220317903,2	K562	blood:
2	chr1:220310376..220313280-chr1:220314937..220318640,3	MCF-7	breast:
3	chr1:220315243..220316862-chr1:220317424..220318949,2	K562	blood:

Variant related genes	Relation type
ENSG00000232134	Chromatin interaction
ENSG00000067704	Chromatin interaction
ENSG00000238576	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1039206	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1124763	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12022336	0.81[AFR][1000 genomes]
rs12025326	0.81[AFR][1000 genomes]
rs12031256	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12037712	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12039349	0.81[AFR][1000 genomes]
rs12045447	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17007107	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17007139	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3767656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820455	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58256586	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58966246	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59935950	0.82[AFR][1000 genomes]
rs60736051	0.87[AFR][1000 genomes]
rs73096575	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73096577	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73096595	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098512	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098518	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73098537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098540	0.81[ASN][1000 genomes]
rs73098550	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098551	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098553	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098567	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098579	0.82[AFR][1000 genomes]
rs874331	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 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	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
7	chr1:220296600-220323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:220298600-220321600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
10	chr1:220299000-220321200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:220299000-220322800	Weak transcription	Stomach Mucosa	stomach
12	chr1:220300000-220321000	Strong transcription	Fetal Intestine Large	intestine
13	chr1:220300000-220321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:220303800-220331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:220304600-220316400	Strong transcription	Fetal Stomach	stomach
16	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
17	chr1:220305400-220315800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:220305400-220321600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:220305400-220347000	Strong transcription	Dnd41	blood
21	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:220305600-220316400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:220305800-220321600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:220306000-220316400	Strong transcription	Left Ventricle	heart
27	chr1:220306000-220319800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:220306000-220321000	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:220306000-220322000	Strong transcription	Liver	Liver
30	chr1:220306200-220322800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:220306400-220316400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:220306400-220321400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:220306600-220317000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:220306600-220322800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:220307000-220319600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:220307200-220315800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:220307200-220316600	Strong transcription	K562	blood
41	chr1:220307400-220321600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:220308400-220324800	Weak transcription	HSMMtube	muscle
43	chr1:220308400-220327600	Weak transcription	Aorta	Aorta
44	chr1:220308400-220329600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
46	chr1:220310000-220324400	Strong transcription	Osteobl	bone
47	chr1:220310200-220319000	Strong transcription	HSMM	muscle
48	chr1:220310200-220319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:220310200-220320200	Strong transcription	GM12878-XiMat	blood
50	chr1:220310200-220321000	Strong transcription	A549	lung

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