Variant report

Variant	rs55707430
Chromosome Location	chr3:150304883-150304884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150304286-150305358	A549	lung:	n/a	n/a
2	POLR2A	chr3:150304300-150305398	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:150304776-150305512	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:150304873-150304890	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:150304847-150304998	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:150304166-150307088	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150264606..150266340-chr3:150304778..150306324,2	MCF-7	breast:
2	chr3:150304290..150306605-chr3:150321050..150322938,2	K562	blood:
3	chr3:150303194..150305139-chr3:150319418..150321483,2	MCF-7	breast:
4	chr3:150295926..150298011-chr3:150304810..150307775,2	MCF-7	breast:
5	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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11548666	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921309	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922033	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927175	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927998	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107730	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214539	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214746	0.83[EUR][1000 genomes]
rs17440940	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1915945	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965473	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293150	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293151	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723846	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208302	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217437	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885545	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60142519	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61667461	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001317	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001341	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001347	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003042	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7430992	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650013	0.92[EUR][1000 genomes];1.00[ASN][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:123 , 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	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:150277200-150305200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:150278000-150306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:150278400-150306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:150280200-150305000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:150280200-150307800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:150283200-150305200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:150286600-150305400	Weak transcription	Colonic Mucosa	Colon
12	chr3:150291600-150306200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:150294200-150305000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:150294200-150314600	Weak transcription	Psoas Muscle	Psoas
15	chr3:150294400-150306600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:150295200-150306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:150295400-150307200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:150297400-150306400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:150297600-150305200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:150297800-150305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:150297800-150305000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:150298000-150306400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:150299200-150305000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:150300000-150305000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:150300200-150305200	Strong transcription	A549	lung
27	chr3:150300800-150316200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:150301600-150306600	Strong transcription	GM12878-XiMat	blood
29	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
30	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
31	chr3:150302600-150307600	Weak transcription	NHDF-Ad	bronchial
32	chr3:150302800-150305000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:150302800-150305600	Strong transcription	Fetal Intestine Small	intestine
34	chr3:150303000-150306000	Weak transcription	Primary B cells from cord blood	blood
35	chr3:150303000-150316400	Weak transcription	HUVEC	blood vessel
36	chr3:150303200-150306000	Weak transcription	Right Ventricle	heart
37	chr3:150303200-150307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:150303400-150316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:150303600-150305400	Weak transcription	Fetal Kidney	kidney
40	chr3:150303600-150306000	Weak transcription	Brain Substantia Nigra	brain
41	chr3:150303600-150306200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:150303600-150306400	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:150303600-150306400	Weak transcription	Gastric	stomach
44	chr3:150303600-150307400	Weak transcription	Stomach Mucosa	stomach
45	chr3:150303600-150308000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:150303600-150308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:150303600-150310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:150303600-150315600	Weak transcription	HMEC	breast
49	chr3:150303600-150317400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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