Variant report

Variant	rs28412073
Chromosome Location	chr4:110387569-110387570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110381168..110383587-chr4:110385101..110388629,3	K562	blood:
2	chr4:110363846..110365519-chr4:110386986..110389569,2	MCF-7	breast:
3	chr4:110384184..110389120-chr4:110389509..110396492,10	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10003981	1.00[EUR][1000 genomes]
rs10005225	1.00[EUR][1000 genomes]
rs10008457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011971	1.00[EUR][1000 genomes]
rs10020652	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040498	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460762	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541279	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595287	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663368	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680423	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829974	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533431	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	1.00[EUR][1000 genomes]
rs6812917	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834714	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6838597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840561	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854516	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7665738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	1.00[EUR][1000 genomes]
rs7674196	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677736	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681265	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685647	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7697001	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997563	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110366000-110391400	Weak transcription	Small Intestine	intestine
3	chr4:110371400-110393200	Weak transcription	Stomach Mucosa	stomach
4	chr4:110371600-110393400	Weak transcription	HSMMtube	muscle
5	chr4:110378800-110415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:110382800-110390400	Strong transcription	NH-A	brain
7	chr4:110383000-110387800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:110383000-110387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:110383400-110388000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:110383400-110396000	Strong transcription	Fetal Thymus	thymus
11	chr4:110383400-110397600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:110383600-110388200	Strong transcription	HUVEC	blood vessel
13	chr4:110383600-110391600	Weak transcription	Psoas Muscle	Psoas
14	chr4:110383600-110392000	Strong transcription	HSMM	muscle
15	chr4:110383800-110387800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:110383800-110389400	Strong transcription	Primary hematopoietic stem cells	blood
17	chr4:110384000-110387600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:110384000-110387600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:110384000-110388000	Strong transcription	Primary B cells from cord blood	blood
20	chr4:110384800-110392800	Weak transcription	Hela-S3	cervix
21	chr4:110384800-110399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:110384800-110401000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:110385000-110393000	Weak transcription	A549	lung
24	chr4:110385200-110392000	Weak transcription	NHEK	skin
25	chr4:110385400-110402800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:110385400-110403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:110385600-110391400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:110385600-110391400	Weak transcription	Ovary	ovary
29	chr4:110385600-110391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:110385600-110391600	Weak transcription	Pancreas	Pancrea
31	chr4:110385600-110392200	Weak transcription	Left Ventricle	heart
32	chr4:110385600-110415800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:110385600-110415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:110385600-110415800	Weak transcription	Esophagus	oesophagus
35	chr4:110385800-110391600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:110385800-110391600	Weak transcription	Fetal Stomach	stomach
37	chr4:110385800-110393400	Weak transcription	Aorta	Aorta
38	chr4:110385800-110398200	Weak transcription	Fetal Intestine Small	intestine
39	chr4:110385800-110415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:110385800-110415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:110385800-110415800	Weak transcription	Colonic Mucosa	Colon
42	chr4:110386000-110393000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:110386000-110395200	Weak transcription	Fetal Kidney	kidney
44	chr4:110386000-110415800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:110386200-110389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:110386200-110391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:110386200-110391600	Weak transcription	Gastric	stomach
48	chr4:110386200-110393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:110386200-110393200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:110386200-110415800	Weak transcription	Lung	lung

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