Variant report

Variant	rs58244627
Chromosome Location	chr4:48429920-48429921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48426298..48428029-chr4:48428848..48431056,2	MCF-7	breast:
2	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10517225	0.86[EUR][1000 genomes]
rs11932126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134960	0.86[EUR][1000 genomes]
rs1565218	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861344	0.86[EUR][1000 genomes]
rs16861347	0.86[EUR][1000 genomes]
rs17609521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609535	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.86[EUR][1000 genomes]
rs17609761	0.86[EUR][1000 genomes]
rs17655725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171577	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.86[EUR][1000 genomes]
rs4695378	0.95[EUR][1000 genomes]
rs55730515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56932035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57676508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707818	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73814762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814782	0.86[EUR][1000 genomes]
rs7693468	0.92[AMR][1000 genomes];1.00[EUR][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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
4	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:48406200-48433200	Weak transcription	NHEK	skin
6	chr4:48413200-48430000	Weak transcription	Aorta	Aorta
7	chr4:48413200-48431800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:48413400-48431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:48422600-48431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:48422600-48432000	Weak transcription	Psoas Muscle	Psoas
11	chr4:48422600-48433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48422600-48433600	Weak transcription	Esophagus	oesophagus
13	chr4:48422600-48434400	Weak transcription	Brain Germinal Matrix	brain
14	chr4:48423200-48433200	Weak transcription	Gastric	stomach
15	chr4:48423400-48438200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:48423600-48433200	Weak transcription	Pancreas	Pancrea
17	chr4:48424400-48430200	Weak transcription	Fetal Stomach	stomach
18	chr4:48424400-48432200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:48424400-48432400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:48424600-48432000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:48424800-48430400	Weak transcription	Colonic Mucosa	Colon
22	chr4:48425000-48431000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:48425000-48431600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:48425000-48431800	Weak transcription	GM12878-XiMat	blood
25	chr4:48425000-48433200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:48425200-48430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:48425200-48431000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:48425200-48432000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:48425200-48432600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:48425200-48433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:48425200-48433200	Weak transcription	HUVEC	blood vessel
32	chr4:48425200-48433800	Weak transcription	Stomach Mucosa	stomach
33	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:48425400-48431000	Weak transcription	Fetal Kidney	kidney
35	chr4:48425400-48433200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:48425400-48438400	Weak transcription	HSMMtube	muscle
37	chr4:48425600-48431800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:48425600-48432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:48425800-48430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:48425800-48430800	Weak transcription	Ovary	ovary
41	chr4:48425800-48431000	Weak transcription	Brain Anterior Caudate	brain
42	chr4:48425800-48431000	Weak transcription	NHDF-Ad	bronchial
43	chr4:48425800-48431400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:48425800-48431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:48425800-48431600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:48425800-48431800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:48425800-48431800	Weak transcription	Lung	lung
48	chr4:48425800-48432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:48425800-48432600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:48425800-48432600	Weak transcription	NH-A	brain

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