Variant report

Variant	rs34366700
Chromosome Location	chr3:49378832-49378833
allele	GC/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49376950-49378902	HL-60	blood:	n/a	n/a
2	POLR2A	chr3:49377111-49378870	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:49376948-49378881	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49207496..49209154-chr3:49376769..49379124,2	MCF-7	breast:
2	chr3:49375789..49379333-chr3:49446166..49450939,13	K562	blood:
3	chr3:49376524..49378988-chr3:49507303..49509521,2	MCF-7	breast:
4	chr3:49376764..49379634-chr3:49465144..49467494,3	MCF-7	breast:
5	chr3:49375112..49379681-chr3:49446166..49452291,17	K562	blood:
6	chr3:49377853..49379731-chr3:49460064..49462187,2	K562	blood:
7	chr3:49376293..49379620-chr3:49448851..49451356,3	MCF-7	breast:
8	chr3:49064325..49066470-chr3:49377582..49379875,2	K562	blood:
9	chr3:49377084..49379212-chr3:49447955..49450362,2	MCF-7	breast:

No data

Variant related genes	Relation type
USP4	TF binding region
ENSG00000145029	Chromatin interaction
ENSG00000235261	Chromatin interaction
ENSG00000145020	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000185909	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11707940	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11709788	0.85[ASN][1000 genomes]
rs11920251	0.85[ASN][1000 genomes]
rs12497569	0.83[ASN][1000 genomes]
rs12715435	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13077723	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13078949	0.81[ASN][1000 genomes]
rs1865741	0.83[ASN][1000 genomes]
rs2230929	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2304442	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34142492	0.81[ASN][1000 genomes]
rs34514189	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34567776	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34915642	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35446411	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35869135	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4410472	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4554002	0.81[ASN][1000 genomes]
rs4955431	0.83[ASN][1000 genomes]
rs56038006	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67882627	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6795772	0.83[ASN][1000 genomes]
rs73086105	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7640903	0.81[ASN][1000 genomes]
rs9818758	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9863142	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9864406	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9873994	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9874474	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9883409	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49377600-49379000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr3:49378200-49379000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:49378200-49379000	Enhancers	Right Ventricle	heart
4	chr3:49378400-49379000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:49378400-49379000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:49378400-49379000	Enhancers	Fetal Heart	heart
7	chr3:49378400-49379000	Enhancers	Spleen	Spleen
8	chr3:49378400-49379600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:49378400-49382400	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:49378600-49379000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:49378600-49379000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:49378600-49379000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:49378600-49379000	Enhancers	Fetal Intestine Large	intestine
14	chr3:49378600-49379000	Enhancers	Fetal Intestine Small	intestine
15	chr3:49378600-49379000	Enhancers	Fetal Stomach	stomach
16	chr3:49378600-49379000	Enhancers	Left Ventricle	heart
17	chr3:49378600-49379000	Enhancers	Lung	lung
18	chr3:49378600-49379200	Enhancers	Fetal Muscle Trunk	muscle
19	chr3:49378600-49379400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:49378600-49379400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:49378600-49379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:49378600-49379600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:49378600-49379600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:49378600-49379600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:49378600-49379600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:49378600-49379600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:49378600-49379600	Enhancers	Placenta	Placenta
28	chr3:49378600-49379600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:49378600-49379800	Enhancers	Thymus	Thymus
30	chr3:49378600-49380000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr3:49378600-49380000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:49378600-49380000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:49378600-49380000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:49378600-49380000	Enhancers	Fetal Thymus	thymus
35	chr3:49378600-49380200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:49378600-49380200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr3:49378600-49380400	Enhancers	Primary B cells from cord blood	blood
38	chr3:49378600-49380400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:49378600-49380600	Enhancers	GM12878-XiMat	blood
40	chr3:49378600-49380800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:49378600-49381200	Weak transcription	Right Atrium	heart
42	chr3:49378600-49381400	Weak transcription	Liver	Liver
43	chr3:49378600-49382000	Enhancers	Primary hematopoietic stem cells	blood
44	chr3:49378600-49382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:49378600-49382000	Weak transcription	NHDF-Ad	bronchial
46	chr3:49378600-49382400	Weak transcription	Osteobl	bone
47	chr3:49378600-49382600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:49378600-49382600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:49378600-49382600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:49378600-49382600	Weak transcription	NH-A	brain

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