Variant report

Variant	rs9311441
Chromosome Location	chr3:49502626-49502627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr3:49502542-49503721	HepG2	liver:	n/a	n/a
2	FOS	chr3:49502348-49503079	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr3:49502356-49502646	MCF-7	breast:	n/a	n/a
4	CEBPB	chr3:49502319-49502945	HepG2	liver:	n/a	chr3:49502814-49502825
5	TEAD4	chr3:49502246-49502698	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:49502317-49503378	Hela-S3	cervix:	n/a	chr3:49502814-49502825
7	CEBPB	chr3:49502233-49503281	HCT-116	colon:	n/a	chr3:49502814-49502825
8	FOS	chr3:49502350-49503070	MCF10A-Er-Src	breast:	n/a	n/a
9	JUND	chr3:49502380-49503126	Hela-S3	cervix:	n/a	chr3:49502894-49502905
10	FOS	chr3:49502341-49503057	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr3:49502230-49503324	HCT-116	colon:	n/a	chr3:49502814-49502825
12	CEBPB	chr3:49502320-49502902	IMR90	lung:	n/a	chr3:49502814-49502825
13	CEBPB	chr3:49502362-49503252	K562	blood:	n/a	chr3:49502814-49502825
14	ZNF384	chr3:49502392-49503415	K562	blood:	n/a	n/a
15	STAT3	chr3:49502342-49502879	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr3:49502342-49503428	HepG2	liver:	n/a	chr3:49502814-49502825
17	GTF3C2	chr3:49502502-49503173	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:49502341-49502970	A549	lung:	n/a	chr3:49502814-49502825
19	CEBPB	chr3:49502352-49503192	HepG2	liver:	n/a	chr3:49502814-49502825
20	FOS	chr3:49502341-49503082	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49449241..49451638-chr3:49500834..49502786,2	MCF-7	breast:
2	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:

Variant related genes	Relation type
DAG1	TF binding region
ENSG00000173402	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11130201	0.89[AFR][1000 genomes]
rs11717485	1.00[AFR][1000 genomes]
rs1522929	1.00[AFR][1000 genomes]
rs1568663	0.94[AFR][1000 genomes]
rs17080495	0.94[AFR][1000 genomes]
rs17080510	0.95[AFR][1000 genomes]
rs17080567	0.94[AFR][1000 genomes]
rs17080664	0.92[AFR][1000 genomes]
rs1996874	0.95[AFR][1000 genomes]
rs2131107	0.89[AFR][1000 genomes]
rs2311794	1.00[AFR][1000 genomes]
rs2311801	0.86[AFR][1000 genomes]
rs2329024	0.89[AFR][1000 genomes]
rs3870334	0.86[AFR][1000 genomes]
rs3870340	0.94[AFR][1000 genomes]
rs3912831	0.84[AFR][1000 genomes]
rs4241409	1.00[AFR][1000 genomes]
rs4452334	1.00[AFR][1000 genomes]
rs4855856	0.89[AFR][1000 genomes]
rs4855857	0.89[AFR][1000 genomes]
rs4855870	1.00[AFR][1000 genomes]
rs4855872	0.90[AFR][1000 genomes]
rs4855874	1.00[AFR][1000 genomes]
rs4855875	1.00[AFR][1000 genomes]
rs4855876	0.83[AFR][1000 genomes]
rs4855878	1.00[AFR][1000 genomes]
rs4855879	0.83[AFR][1000 genomes]
rs55677747	0.81[AFR][1000 genomes]
rs55808753	1.00[AFR][1000 genomes]
rs55990645	0.97[AFR][1000 genomes]
rs56101322	1.00[AFR][1000 genomes]
rs56760510	0.86[AFR][1000 genomes]
rs56897974	1.00[AFR][1000 genomes]
rs59579780	0.86[AFR][1000 genomes]
rs60011446	1.00[AFR][1000 genomes]
rs61749312	0.92[AFR][1000 genomes]
rs6446269	0.97[AFR][1000 genomes]
rs6446270	1.00[AFR][1000 genomes]
rs6446271	1.00[AFR][1000 genomes]
rs6446273	1.00[AFR][1000 genomes]
rs6446276	1.00[AFR][1000 genomes]
rs6446278	0.83[AFR][1000 genomes]
rs6446279	0.94[AFR][1000 genomes]
rs6446280	0.92[AFR][1000 genomes]
rs6446281	0.84[AFR][1000 genomes]
rs6446282	0.86[AFR][1000 genomes]
rs6787665	0.94[AFR][1000 genomes]
rs6793124	0.95[AFR][1000 genomes]
rs6797164	0.83[AFR][1000 genomes]
rs73830703	1.00[AFR][1000 genomes]
rs73830704	1.00[AFR][1000 genomes]
rs73830705	1.00[AFR][1000 genomes]
rs73830706	1.00[AFR][1000 genomes]
rs73831434	0.81[AFR][1000 genomes]
rs73831435	0.83[AFR][1000 genomes]
rs73831438	0.83[AFR][1000 genomes]
rs73831439	0.86[AFR][1000 genomes]
rs73831440	0.86[AFR][1000 genomes]
rs73831441	0.86[AFR][1000 genomes]
rs73831442	0.92[AFR][1000 genomes]
rs7646393	0.94[AFR][1000 genomes]
rs8179172	1.00[AFR][1000 genomes]
rs9830627	0.94[AFR][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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49490600-49506600	Enhancers	Fetal Muscle Leg	muscle
2	chr3:49491800-49506200	Enhancers	Placenta	Placenta
3	chr3:49497400-49506400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:49498000-49506000	Weak transcription	Fetal Stomach	stomach
5	chr3:49499600-49503000	Weak transcription	Colonic Mucosa	Colon
6	chr3:49499600-49503000	Weak transcription	Right Atrium	heart
7	chr3:49499600-49503000	Weak transcription	Spleen	Spleen
8	chr3:49499600-49503200	Weak transcription	Esophagus	oesophagus
9	chr3:49499600-49503200	Weak transcription	Lung	lung
10	chr3:49499600-49503200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:49499600-49506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:49499800-49503000	Weak transcription	Right Ventricle	heart
13	chr3:49499800-49503000	Weak transcription	HMEC	breast
14	chr3:49500000-49502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:49500000-49502800	Weak transcription	Fetal Intestine Large	intestine
16	chr3:49500000-49502800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:49500000-49503000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:49500000-49503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:49500000-49503000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:49500000-49503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:49500000-49503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:49500000-49503000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:49500000-49503000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:49500000-49503000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:49500000-49503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:49500000-49503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:49500000-49503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:49500000-49503000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:49500000-49503000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:49500000-49503000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:49500000-49503000	Weak transcription	Gastric	stomach
32	chr3:49500000-49503000	Weak transcription	Left Ventricle	heart
33	chr3:49500000-49503000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:49500000-49503000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:49500000-49503000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:49500000-49503000	Weak transcription	Stomach Mucosa	stomach
37	chr3:49500000-49503000	Weak transcription	A549	lung
38	chr3:49500000-49503000	Weak transcription	HSMM	muscle
39	chr3:49500000-49503000	Weak transcription	HSMMtube	muscle
40	chr3:49500000-49503400	Weak transcription	Small Intestine	intestine
41	chr3:49500000-49504800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:49500000-49505600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:49500000-49505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:49500000-49506200	Weak transcription	Adipose Nuclei	Adipose
45	chr3:49500000-49506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:49500000-49506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:49500000-49506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:49500000-49506400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:49500000-49506400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:49500000-49506400	Weak transcription	Psoas Muscle	Psoas

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