Variant report

Variant	rs4609464
Chromosome Location	chr1:62737372-62737373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10889316	0.89[ASN][1000 genomes]
rs11207950	0.98[ASN][1000 genomes]
rs11207951	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207952	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11579934	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11583803	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11584786	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127930	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17855078	0.85[EUR][1000 genomes]
rs6664843	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6695520	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62721000-62739400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:62729000-62737600	Weak transcription	Right Atrium	heart
3	chr1:62729600-62737400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:62729600-62737400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:62729600-62737600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:62729600-62737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:62729800-62737400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:62732200-62737600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:62732400-62737400	Weak transcription	Fetal Kidney	kidney
10	chr1:62732400-62737600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:62732400-62737600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62732400-62737600	Weak transcription	Placenta	Placenta
13	chr1:62732400-62740000	Weak transcription	Liver	Liver
14	chr1:62732400-62748400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:62732800-62737600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:62733000-62741000	Weak transcription	Brain Germinal Matrix	brain
17	chr1:62733200-62737400	Weak transcription	Fetal Lung	lung
18	chr1:62734000-62737400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:62734200-62750800	Weak transcription	Gastric	stomach
20	chr1:62734800-62737400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:62734800-62737400	Weak transcription	Pancreas	Pancrea
22	chr1:62734800-62737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:62735800-62740600	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr1:62736200-62739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:62736400-62738400	Enhancers	Fetal Heart	heart
26	chr1:62736400-62739400	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:62736400-62739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:62736400-62740400	Enhancers	Fetal Thymus	thymus
29	chr1:62736400-62741000	Strong transcription	HepG2	liver
30	chr1:62736800-62737400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:62736800-62738400	Enhancers	Fetal Muscle Leg	muscle
32	chr1:62736800-62738800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:62736800-62739000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:62736800-62739000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:62736800-62739400	Enhancers	Primary T cells from cord blood	blood
36	chr1:62736800-62739600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:62736800-62739600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:62737000-62738000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:62737000-62738000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62737000-62738400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:62737000-62738400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:62737000-62739200	Enhancers	Thymus	Thymus
43	chr1:62737000-62739400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:62737000-62740600	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr1:62737200-62737600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:62737200-62737600	Weak transcription	Esophagus	oesophagus
47	chr1:62737200-62737800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:62737200-62738200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:62737200-62738400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:62737200-62738400	Genic enhancers	Fetal Stomach	stomach

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