Variant report

Variant	rs4683153
Chromosome Location	chr3:45974968-45974969
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45973841..45976554-chr3:45977102..45979618,2	MCF-7	breast:

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]
rs1532071	0.81[EUR][1000 genomes]
rs1601867	0.81[EUR][1000 genomes]
rs17078449	0.97[ASN][1000 genomes]
rs17078454	0.95[ASN][1000 genomes]
rs1994489	0.81[EUR][1000 genomes]
rs2234351	0.95[ASN][1000 genomes]
rs2234358	0.81[EUR][1000 genomes]
rs3774638	0.95[ASN][1000 genomes]
rs3774640	0.95[ASN][1000 genomes]
rs4682799	0.81[EUR][1000 genomes]
rs4682800	0.81[EUR][1000 genomes]
rs4683152	0.81[ASN][1000 genomes]
rs57204020	0.95[ASN][1000 genomes]
rs60237998	0.95[ASN][1000 genomes]
rs60779624	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62242787	0.94[ASN][1000 genomes]
rs62242788	0.88[ASN][1000 genomes]
rs62245106	0.91[ASN][1000 genomes]
rs62245108	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6778225	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6778324	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6781121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800954	0.94[ASN][1000 genomes]
rs7631809	0.95[ASN][1000 genomes]
rs9311380	0.81[EUR][1000 genomes]
rs936939	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	chr3:45958800-45980000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:45958800-45980200	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:45958800-45988000	Weak transcription	HUVEC	blood vessel
5	chr3:45959200-45979800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:45959200-45980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:45959800-45979800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:45959800-45979800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:45959800-45980400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:45960000-45979400	Strong transcription	Fetal Intestine Large	intestine
12	chr3:45960000-45980400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:45960400-45980200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:45961600-45979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:45961600-45979800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:45963200-45985200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:45963800-45979800	Strong transcription	Primary T cells from cord blood	blood
18	chr3:45963800-45979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:45964400-45980400	Weak transcription	Fetal Brain Female	brain
20	chr3:45965400-45975800	Weak transcription	Psoas Muscle	Psoas
21	chr3:45965400-45977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:45965400-45980400	Weak transcription	Fetal Brain Male	brain
23	chr3:45966000-45980600	Weak transcription	HMEC	breast
24	chr3:45966800-45979600	Strong transcription	Liver	Liver
25	chr3:45967000-45976600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:45967000-45978200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr3:45967200-45977600	Strong transcription	Primary B cells from cord blood	blood
28	chr3:45967200-45979400	Strong transcription	Adipose Nuclei	Adipose
29	chr3:45967200-45979800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:45967200-45980000	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:45967400-45979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:45967800-45976200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:45968000-45979200	Strong transcription	Placenta	Placenta
34	chr3:45968400-45979800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:45968400-45979800	Strong transcription	Ovary	ovary
36	chr3:45968600-45978800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:45968600-45979000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:45968600-45979800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:45968600-45980200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:45968800-45976000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:45968800-45979200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:45968800-45979200	Strong transcription	HepG2	liver
43	chr3:45968800-45979400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:45968800-45979400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:45968800-45979400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:45969000-45975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:45969000-45977400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr3:45969000-45978400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:45969000-45978600	Strong transcription	K562	blood
50	chr3:45969000-45979000	Strong transcription	Brain Substantia Nigra	brain

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