Variant report

Variant	rs62245108
Chromosome Location	chr3:45973322-45973323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45961740..45963512-chr3:45972118..45973716,2	MCF-7	breast:
2	chr3:45945916..45947727-chr3:45972122..45974949,2	K562	blood:
3	chr3:45972956..45974535-chr3:45977959..45979517,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1072755	0.81[ASN][1000 genomes]
rs17078449	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17078454	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2234351	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35537559	0.84[EUR][1000 genomes]
rs3774638	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774640	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796376	0.86[EUR][1000 genomes]
rs3821883	0.84[EUR][1000 genomes]
rs4683152	0.81[ASN][1000 genomes]
rs4683153	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57204020	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59226168	0.82[EUR][1000 genomes]
rs59767267	0.83[EUR][1000 genomes]
rs60237998	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60779624	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62242787	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62242788	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62242796	0.84[EUR][1000 genomes]
rs62245106	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6778225	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6778324	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6781121	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6781668	0.84[EUR][1000 genomes]
rs6800954	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7631809	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs936939	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr3:45958000-45980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:45958400-45974200	Strong transcription	Fetal Stomach	stomach
3	chr3:45958800-45980000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:45958800-45980200	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:45958800-45988000	Weak transcription	HUVEC	blood vessel
6	chr3:45959000-45973600	Weak transcription	Fetal Kidney	kidney
7	chr3:45959200-45979800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:45959200-45980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:45959400-45973400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:45959800-45974600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr3:45959800-45979800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:45959800-45979800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:45959800-45980400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:45960000-45979400	Strong transcription	Fetal Intestine Large	intestine
16	chr3:45960000-45980400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:45960200-45974200	Strong transcription	Fetal Intestine Small	intestine
18	chr3:45960400-45980200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:45961600-45979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:45961600-45979800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:45963200-45985200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:45963800-45979800	Strong transcription	Primary T cells from cord blood	blood
23	chr3:45963800-45979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:45964400-45980400	Weak transcription	Fetal Brain Female	brain
25	chr3:45965400-45975800	Weak transcription	Psoas Muscle	Psoas
26	chr3:45965400-45977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:45965400-45980400	Weak transcription	Fetal Brain Male	brain
28	chr3:45966000-45980600	Weak transcription	HMEC	breast
29	chr3:45966200-45974000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:45966800-45979600	Strong transcription	Liver	Liver
31	chr3:45967000-45976600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:45967000-45978200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:45967200-45974600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr3:45967200-45977600	Strong transcription	Primary B cells from cord blood	blood
35	chr3:45967200-45979400	Strong transcription	Adipose Nuclei	Adipose
36	chr3:45967200-45979800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:45967200-45980000	Strong transcription	Fetal Muscle Leg	muscle
38	chr3:45967400-45979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:45967800-45976200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:45968000-45974000	Strong transcription	Brain Hippocampus Middle	brain
41	chr3:45968000-45979200	Strong transcription	Placenta	Placenta
42	chr3:45968400-45974600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:45968400-45979800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:45968400-45979800	Strong transcription	Ovary	ovary
45	chr3:45968600-45973400	Strong transcription	Lung	lung
46	chr3:45968600-45974200	Strong transcription	Spleen	Spleen
47	chr3:45968600-45974400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr3:45968600-45978800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:45968600-45979000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:45968600-45979800	Strong transcription	Stomach Smooth Muscle	stomach

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