Variant report

Variant	rs73246021
Chromosome Location	chr4:48414342-48414343
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48409760..48411298-chr4:48411593..48414353,2	K562	blood:
2	chr4:48413445..48415846-chr4:48421918..48423637,2	K562	blood:
3	chr4:48402728..48404453-chr4:48414243..48416411,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10517218	0.80[ASN][1000 genomes]
rs13101954	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13142082	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1352432	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466631	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1844149	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2029347	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291476	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28840724	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34239305	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34380340	0.80[ASN][1000 genomes]
rs35265097	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35963236	0.88[ASN][1000 genomes]
rs36157430	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs366168	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs375259	0.86[EUR][1000 genomes]
rs384885	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs393338	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3943122	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397257	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs401463	0.83[EUR][1000 genomes]
rs409911	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4694894	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695374	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs565234	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs565385	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62309450	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62311260	0.90[ASN][1000 genomes]
rs6447629	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66671150	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6819696	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6819847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73246023	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3465245	chr4:48414186-48414672	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3428160	chr4:48414227-48414549	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3465243	chr4:48414257-48414580	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3347709	chr4:48414312-48414619	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3465244	chr4:48414315-48414554	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3465246	chr4:48414329-48414553	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
2	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
7	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:48391200-48423200	Weak transcription	NHLF	lung
12	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
14	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:48396200-48422000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
17	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
18	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood
19	chr4:48399000-48422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:48399000-48423800	Weak transcription	NH-A	brain
21	chr4:48399000-48423800	Weak transcription	NHDF-Ad	bronchial
22	chr4:48399200-48422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:48399200-48426000	Weak transcription	A549	lung
24	chr4:48399800-48424400	Weak transcription	Brain Anterior Caudate	brain
25	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
26	chr4:48400200-48423200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:48400200-48426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:48404600-48421800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:48404800-48423600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:48405400-48422200	Weak transcription	Osteobl	bone
31	chr4:48405800-48421800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:48405800-48422200	Weak transcription	Fetal Thymus	thymus
33	chr4:48406000-48414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:48406000-48422200	Weak transcription	Esophagus	oesophagus
35	chr4:48406000-48423800	Weak transcription	Fetal Brain Female	brain
36	chr4:48406000-48424600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:48406000-48424600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:48406200-48421400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:48406200-48422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:48406200-48422000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:48406200-48422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:48406200-48422200	Weak transcription	Pancreas	Pancrea
43	chr4:48406200-48433200	Weak transcription	NHEK	skin
44	chr4:48408600-48416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:48409400-48414400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:48411200-48423000	Weak transcription	Hela-S3	cervix
47	chr4:48411400-48414800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:48411800-48424000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:48412800-48414400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:48412800-48422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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