Variant report

Variant	rs6802114
Chromosome Location	chr3:150322240-150322241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:150321747-150322310	K562	blood:	n/a	n/a
2	MYC	chr3:150321909-150322345	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr3:150320690-150322272	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:150320444-150322280	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr3:150320573-150322371	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:150322039-150322303	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr3:150320261-150322408	IMR90	lung:	n/a	n/a
8	TEAD4	chr3:150320553-150322244	K562	blood:	n/a	n/a
9	SIN3AK20	chr3:150320790-150322276	K562	blood:	n/a	n/a
10	MXI1	chr3:150319971-150322484	SK-N-SH	brain:	n/a	n/a
11	TBP	chr3:150320456-150322296	Hela-S3	cervix:	n/a	n/a
12	HCFC1	chr3:150320201-150322492	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr3:150320381-150322542	GM12878	blood:	n/a	n/a
14	CHD1	chr3:150320137-150322461	IMR90	lung:	n/a	n/a
15	CHD1	chr3:150320333-150322319	GM12878	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150262614..150266370-chr3:150321478..150325578,8	K562	blood:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150320987..150322498-chr3:150342766..150344939,2	K562	blood:
4	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
5	chr3:150270043..150272034-chr3:150320453..150322799,2	MCF-7	breast:
6	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
7	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
8	chr3:150320682..150323367-chr3:150434983..150438728,4	MCF-7	breast:
9	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
10	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
11	chr3:150320885..150322876-chr3:150438158..150440375,2	K562	blood:
12	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
13	chr3:150291427..150293718-chr3:150321291..150323523,2	MCF-7	breast:
14	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
15	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
16	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
17	chr3:150298264..150303206-chr3:150320117..150322472,5	MCF-7	breast:
18	chr3:150320651..150322535-chr3:150420731..150422273,2	K562	blood:
19	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
20	chr3:150321297..150323112-chr3:150338077..150339606,2	MCF-7	breast:

No data

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13097283	1.00[CHB][hapmap]
rs1464517	1.00[CHB][hapmap]
rs3745	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4681208	0.90[EUR][1000 genomes]
rs4681636	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs62269086	0.84[EUR][1000 genomes]
rs62269087	0.83[EUR][1000 genomes]
rs62269100	0.88[EUR][1000 genomes]
rs62269102	0.90[EUR][1000 genomes]
rs62283992	0.90[EUR][1000 genomes]
rs62283993	0.90[EUR][1000 genomes]
rs62283994	0.90[EUR][1000 genomes]
rs62284023	0.90[EUR][1000 genomes]
rs62284024	0.90[EUR][1000 genomes]
rs67548051	0.88[EUR][1000 genomes]
rs6794400	0.90[EUR][1000 genomes]
rs73169829	0.88[EUR][1000 genomes]
rs73169833	0.90[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:150318600-150323600	Active TSS	K562	blood
3	chr3:150318800-150322400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:150318800-150322400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:150318800-150323600	Active TSS	GM12878-XiMat	blood
6	chr3:150319200-150322800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:150319400-150323200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:150320000-150322400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:150320000-150322400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:150320000-150322400	Active TSS	Brain Angular Gyrus	brain
11	chr3:150320000-150322400	Active TSS	Fetal Brain Female	brain
12	chr3:150320000-150322400	Active TSS	Fetal Stomach	stomach
13	chr3:150320000-150322400	Active TSS	Psoas Muscle	Psoas
14	chr3:150320000-150322600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:150320000-150322600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:150320000-150322600	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:150320000-150322600	Active TSS	NHEK	skin
18	chr3:150320000-150322800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:150320000-150322800	Active TSS	Hela-S3	cervix
20	chr3:150320000-150323000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:150320000-150323000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:150320000-150323000	Active TSS	NHLF	lung
23	chr3:150320000-150323200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:150320000-150323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:150320000-150323800	Active TSS	A549	lung
26	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:150320200-150322400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr3:150320200-150322400	Active TSS	Thymus	Thymus
29	chr3:150320200-150322400	Active TSS	HSMMtube	muscle
30	chr3:150320200-150322600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:150320200-150322600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:150320200-150322800	Active TSS	Right Ventricle	heart
33	chr3:150320200-150323000	Active TSS	HepG2	liver
34	chr3:150320200-150323000	Active TSS	HMEC	breast
35	chr3:150320200-150323600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:150320400-150322400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr3:150320400-150322400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:150320400-150322400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:150320400-150322400	Active TSS	Colonic Mucosa	Colon
40	chr3:150320400-150322600	Active TSS	NHDF-Ad	bronchial
41	chr3:150320400-150323000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:150320400-150323000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:150320600-150322400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:150320600-150322400	Active TSS	Brain Germinal Matrix	brain
45	chr3:150320600-150322800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:150320600-150322800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:150320800-150322400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:150320800-150322400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:150320800-150322400	Active TSS	Brain Hippocampus Middle	brain
50	chr3:150320800-150322400	Active TSS	Fetal Muscle Leg	muscle

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