Variant report

Variant	rs59569585
Chromosome Location	chr3:105588882-105588883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:105585469-105589218	SK-N-SH	brain:	n/a	chr3:105586147-105586162 chr3:105586149-105586164
2	POLR2A	chr3:105586676-105589189	PBDE	blood:	n/a	n/a
3	POLR2A	chr3:105586780-105588974	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:105585392-105589448	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:105585736-105588972	IMR90	lung:	n/a	n/a
6	SMC3	chr3:105588356-105588938	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:105585481-105589029	GM12891	blood:	n/a	n/a
8	SMC3	chr3:105586688-105589020	Hela-S3	cervix:	n/a	n/a
9	REST	chr3:105586885-105588920	H1-neurons	neurons:	n/a	chr3:105587394-105587407 chr3:105587591-105587600 chr3:105588390-105588399 chr3:105586940-105586949
10	POLR2A	chr3:105585230-105589272	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA1	chr3:105587961-105589797	PBDE	blood:	n/a	chr3:105588139-105588149
12	CUX1	chr3:105588859-105589448	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57913805..57916301-chr3:105586626..105589272,2	MCF-7	breast:

Variant related genes	Relation type
CBLB	TF binding region
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12491881	1.00[EUR][1000 genomes]
rs1503922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851406	1.00[EUR][1000 genomes]
rs16851428	1.00[EUR][1000 genomes]
rs16851443	1.00[EUR][1000 genomes]
rs16851470	1.00[EUR][1000 genomes]
rs16851492	1.00[EUR][1000 genomes]
rs16851534	1.00[EUR][1000 genomes]
rs2055561	0.84[EUR][1000 genomes]
rs2055562	1.00[EUR][1000 genomes]
rs2134716	0.84[EUR][1000 genomes]
rs2134717	0.84[EUR][1000 genomes]
rs2301039	1.00[EUR][1000 genomes]
rs3772535	1.00[EUR][1000 genomes]
rs57292140	0.92[EUR][1000 genomes]
rs57856850	1.00[EUR][1000 genomes]
rs58424957	1.00[EUR][1000 genomes]
rs59184166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59358778	1.00[EUR][1000 genomes]
rs59523739	1.00[EUR][1000 genomes]
rs59612207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60536875	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60737645	0.92[EUR][1000 genomes]
rs61317978	1.00[EUR][1000 genomes]
rs7622735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920711	1.00[EUR][1000 genomes];1.00[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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105582200-105589000	Active TSS	Right Atrium	heart
2	chr3:105583600-105589000	Active TSS	Left Ventricle	heart
3	chr3:105584200-105589200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:105584600-105589200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:105585200-105589000	Active TSS	Ovary	ovary
6	chr3:105585200-105589000	Active TSS	Psoas Muscle	Psoas
7	chr3:105585600-105589000	Active TSS	Fetal Muscle Trunk	muscle
8	chr3:105585600-105589200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:105585800-105589000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:105585800-105589000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:105585800-105589200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:105586000-105589200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:105586000-105589200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:105586200-105589000	Active TSS	Colonic Mucosa	Colon
15	chr3:105586600-105589200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:105586600-105589600	Active TSS	Fetal Intestine Large	intestine
17	chr3:105586800-105589000	ZNF genes & repeats	Fetal Brain Male	brain
18	chr3:105587800-105589200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:105587800-105589600	Active TSS	Brain Germinal Matrix	brain
20	chr3:105588200-105589000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:105588200-105589000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:105588200-105589000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:105588200-105589000	Active TSS	HepG2	liver
24	chr3:105588200-105589000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:105588200-105589400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:105588200-105589600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr3:105588400-105589000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr3:105588400-105589000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:105588400-105589000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr3:105588400-105589000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr3:105588400-105589000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr3:105588400-105589000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr3:105588400-105589000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr3:105588400-105589000	Flanking Active TSS	Dnd41	blood
35	chr3:105588400-105589000	Flanking Active TSS	Hela-S3	cervix
36	chr3:105588400-105589000	Flanking Active TSS	NH-A	brain
37	chr3:105588400-105589000	Flanking Active TSS	NHEK	skin
38	chr3:105588400-105589200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:105588400-105589200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr3:105588400-105589200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr3:105588400-105589200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr3:105588400-105589200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr3:105588400-105589200	Flanking Active TSS	Fetal Lung	lung
44	chr3:105588400-105589200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr3:105588400-105589200	Flanking Active TSS	HMEC	breast
46	chr3:105588400-105589200	Flanking Active TSS	HUVEC	blood vessel
47	chr3:105588400-105589200	Flanking Active TSS	Osteobl	bone
48	chr3:105588400-105589400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr3:105588400-105589400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr3:105588400-105589400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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