Variant report

Variant	rs73001358
Chromosome Location	chr3:150303705-150303706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150302830-150303770	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:150303333-150303745	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:150303005-150303925	GM12892	blood:	n/a	n/a
4	POLR2A	chr3:150303336-150303876	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:150303365-150303829	GM12892	blood:	n/a	n/a
6	POLR2A	chr3:150303397-150303842	K562	blood:	n/a	n/a
7	POLR2A	chr3:150303462-150303825	GM12892	blood:	n/a	n/a
8	POLR2A	chr3:150303503-150303816	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:150303101-150303716	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr3:150300452-150303913	K562	blood:	n/a	n/a
11	POLR2A	chr3:150303407-150303857	GM12891	blood:	n/a	n/a
12	POLR2A	chr3:150303336-150303830	A549	lung:	n/a	n/a
13	POLR2A	chr3:150303401-150303775	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:150303299-150303822	K562	blood:	n/a	n/a
15	POLR2A	chr3:150303257-150303843	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:150303090-150303810	K562	blood:	n/a	n/a
17	POLR2A	chr3:150303400-150303853	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:150303491-150303914	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:150303307-150303745	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150303194..150305139-chr3:150319418..150321483,2	MCF-7	breast:
2	chr3:150295884..150298630-chr3:150301132..150305152,4	K562	blood:

No data

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16862718	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58823857	1.00[EUR][1000 genomes]
rs62269101	0.85[AFR][1000 genomes]
rs6772881	1.00[EUR][1000 genomes]
rs6774750	1.00[EUR][1000 genomes]
rs6794743	1.00[EUR][1000 genomes]
rs73001325	1.00[EUR][1000 genomes]
rs73001336	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73001339	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73001363	0.81[AFR][1000 genomes]
rs73003034	1.00[EUR][1000 genomes]
rs73003079	1.00[EUR][1000 genomes]
rs73869298	1.00[EUR][1000 genomes]
rs73869299	1.00[EUR][1000 genomes]
rs73869301	1.00[EUR][1000 genomes]
rs935223	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
3	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
6	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:150268600-150304000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:150277200-150305200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:150278000-150306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:150278200-150304800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:150278400-150306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:150279400-150303800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:150280000-150304800	Strong transcription	Fetal Thymus	thymus
14	chr3:150280200-150304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:150280200-150304600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:150280200-150304800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:150280200-150305000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:150280200-150307800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:150281400-150303800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:150283200-150305200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:150286600-150305400	Weak transcription	Colonic Mucosa	Colon
22	chr3:150289600-150303800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:150289800-150304000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:150291600-150306200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:150291800-150304000	Strong transcription	Dnd41	blood
26	chr3:150292000-150304800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:150292400-150304000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:150293200-150303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:150293400-150303800	Strong transcription	Adipose Nuclei	Adipose
30	chr3:150293400-150303800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:150293400-150304800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:150293800-150304000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:150294000-150303800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:150294200-150304000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:150294200-150304400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:150294200-150305000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:150294200-150314600	Weak transcription	Psoas Muscle	Psoas
38	chr3:150294400-150306600	Weak transcription	Brain Angular Gyrus	brain
39	chr3:150295200-150306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:150295400-150307200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:150296200-150303800	Strong transcription	Placenta	Placenta
43	chr3:150296400-150303800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:150296400-150303800	Strong transcription	Osteobl	bone
45	chr3:150297400-150303800	Strong transcription	Fetal Intestine Large	intestine
46	chr3:150297400-150306400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:150297600-150303800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:150297600-150303800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:150297600-150303800	Strong transcription	K562	blood
50	chr3:150297600-150305200	Strong transcription	Primary T cells fromperipheralblood	blood

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