Variant report

Variant	rs13066567
Chromosome Location	chr3:150322126-150322127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr3:150320286-150322169	K562	blood:	n/a	n/a
2	CHD1	chr3:150320518-150322165	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr3:150320378-150322202	H1-neurons	neurons:	n/a	n/a
4	SIN3A	chr3:150320708-150322159	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:150320035-150322139	GM12878	blood:	n/a	n/a
6	MXI1	chr3:150320745-150322161	H1-hESC	embryonic stem cell:	n/a	n/a
7	UBTF	chr3:150320739-150322158	K562	blood:	n/a	n/a
8	MXI1	chr3:150321747-150322310	K562	blood:	n/a	n/a
9	MYC	chr3:150321909-150322345	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3A	chr3:150320737-150322233	GM12878	blood:	n/a	n/a
11	MAX	chr3:150320620-150322127	SK-N-SH	brain:	n/a	chr3:150321304-150321314
12	ZNF263	chr3:150320616-150322237	HEK293-T-REx	kidney:	n/a	chr3:150321519-150321528
13	MXI1	chr3:150320690-150322272	Hela-S3	cervix:	n/a	n/a
14	MAX	chr3:150320579-150322161	A549	lung:	n/a	chr3:150321304-150321314
15	POLR2A	chr3:150320444-150322280	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr3:150320573-150322371	MCF-7	breast:	n/a	n/a
17	POLR2A	chr3:150322039-150322303	MCF10A-Er-Src	breast:	n/a	n/a
18	MYBL2	chr3:150321510-150322146	HepG2	liver:	n/a	n/a
19	RFX5	chr3:150321656-150322131	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr3:150320502-150322173	MCF-7	breast:	n/a	n/a
21	POLR2A	chr3:150319798-150322130	GM12878	blood:	n/a	n/a
22	MXI1	chr3:150320261-150322408	IMR90	lung:	n/a	n/a
23	ZNF384	chr3:150321988-150322157	GM12878	blood:	n/a	n/a
24	TEAD4	chr3:150320553-150322244	K562	blood:	n/a	n/a
25	SIN3AK20	chr3:150320790-150322276	K562	blood:	n/a	n/a
26	MAX	chr3:150320598-150322220	HepG2	liver:	n/a	chr3:150321304-150321314
27	MXI1	chr3:150319971-150322484	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr3:150320492-150322148	PBDE	blood:	n/a	n/a
29	TBP	chr3:150320456-150322296	Hela-S3	cervix:	n/a	n/a
30	JUN	chr3:150321885-150322179	K562	blood:	n/a	n/a
31	MAX	chr3:150320653-150322189	MCF-7	breast:	n/a	chr3:150321304-150321314
32	WRNIP1	chr3:150319980-150322174	GM12878	blood:	n/a	n/a
33	HCFC1	chr3:150320201-150322492	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr3:150322073-150322134	GM12878	blood:	n/a	n/a
35	MAX	chr3:150320654-150322171	MCF-7	breast:	n/a	chr3:150321304-150321314
36	MAX	chr3:150320571-150322200	A549	lung:	n/a	chr3:150321304-150321314
37	MAX	chr3:150320699-150322149	K562	blood:	n/a	chr3:150321304-150321314
38	MAX	chr3:150320673-150322174	H1-hESC	embryonic stem cell:	n/a	chr3:150321304-150321314
39	MYC	chr3:150320709-150322134	K562	blood:	n/a	chr3:150321304-150321314
40	CHD2	chr3:150320729-150322135	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr3:150320656-150322162	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr3:150320381-150322542	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:150319920-150322197	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr3:150320137-150322461	IMR90	lung:	n/a	n/a
45	CHD1	chr3:150320333-150322319	GM12878	blood:	n/a	n/a
46	BRCA1	chr3:150320514-150322127	Hela-S3	cervix:	n/a	n/a

No data

(count:21 , 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	chr3:149955587..149957333-chr3:150319703..150322205,2	MCF-7	breast:
9	chr3:150320682..150323367-chr3:150434983..150438728,4	MCF-7	breast:
10	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
11	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
12	chr3:150320885..150322876-chr3:150438158..150440375,2	K562	blood:
13	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
14	chr3:150291427..150293718-chr3:150321291..150323523,2	MCF-7	breast:
15	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
16	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
17	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
18	chr3:150298264..150303206-chr3:150320117..150322472,5	MCF-7	breast:
19	chr3:150320651..150322535-chr3:150420731..150422273,2	K562	blood:
20	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
21	chr3:150321297..150323112-chr3:150338077..150339606,2	MCF-7	breast:

No data

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13100632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34156311	1.00[AMR][1000 genomes]
rs34597052	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35047357	1.00[AMR][1000 genomes]
rs71306516	0.82[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	chr3:150320000-150322200	Active TSS	Fetal Intestine Small	intestine
9	chr3:150320000-150322200	Active TSS	Left Ventricle	heart
10	chr3:150320000-150322200	Active TSS	Pancreas	Pancrea
11	chr3:150320000-150322200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:150320000-150322400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:150320000-150322400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:150320000-150322400	Active TSS	Brain Angular Gyrus	brain
15	chr3:150320000-150322400	Active TSS	Fetal Brain Female	brain
16	chr3:150320000-150322400	Active TSS	Fetal Stomach	stomach
17	chr3:150320000-150322400	Active TSS	Psoas Muscle	Psoas
18	chr3:150320000-150322600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:150320000-150322600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:150320000-150322600	Active TSS	Stomach Smooth Muscle	stomach
21	chr3:150320000-150322600	Active TSS	NHEK	skin
22	chr3:150320000-150322800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:150320000-150322800	Active TSS	Hela-S3	cervix
24	chr3:150320000-150323000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:150320000-150323000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:150320000-150323000	Active TSS	NHLF	lung
27	chr3:150320000-150323200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:150320000-150323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:150320000-150323800	Active TSS	A549	lung
30	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr3:150320200-150322200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:150320200-150322200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:150320200-150322200	Active TSS	Fetal Muscle Trunk	muscle
34	chr3:150320200-150322400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:150320200-150322400	Active TSS	Thymus	Thymus
36	chr3:150320200-150322400	Active TSS	HSMMtube	muscle
37	chr3:150320200-150322600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:150320200-150322600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:150320200-150322800	Active TSS	Right Ventricle	heart
40	chr3:150320200-150323000	Active TSS	HepG2	liver
41	chr3:150320200-150323000	Active TSS	HMEC	breast
42	chr3:150320200-150323600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:150320400-150322200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:150320400-150322200	Active TSS	Brain Cingulate Gyrus	brain
45	chr3:150320400-150322200	Active TSS	Colon Smooth Muscle	Colon
46	chr3:150320400-150322200	ZNF genes & repeats	Fetal Brain Male	brain
47	chr3:150320400-150322200	Active TSS	Small Intestine	intestine
48	chr3:150320400-150322400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr3:150320400-150322400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:150320400-150322400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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