Variant report

Variant	rs34549395
Chromosome Location	chr3:118957544-118957545
allele	A/C
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	CEBPB	chr3:118957134-118957770	IMR90	lung:	n/a	chr3:118957149-118957162 chr3:118957149-118957162 chr3:118957150-118957161 chr3:118957148-118957165
2	CEBPB	chr3:118957521-118957758	HepG2	liver:	n/a	n/a
3	NFIC	chr3:118957175-118957578	GM12878	blood:	n/a	n/a
4	CEBPB	chr3:118957461-118957655	K562	blood:	n/a	n/a
5	CEBPB	chr3:118957131-118957776	K562	blood:	n/a	chr3:118957149-118957162 chr3:118957149-118957162 chr3:118957150-118957161 chr3:118957148-118957165
6	CEBPB	chr3:118957451-118957743	A549	lung:	n/a	n/a
7	CEBPB	chr3:118957394-118957828	A549	lung:	n/a	n/a
8	POLR2A	chr3:118957525-118957651	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr3:118957348-118957926	A549	lung:	n/a	n/a
10	TBL1XR1	chr3:118957343-118957582	K562	blood:	n/a	n/a
11	RUNX3	chr3:118957120-118957636	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:
2	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
3	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
4	chr3:118952753..118957545-chr3:118958102..118959880,7	K562	blood:

Variant related genes	Relation type
B4GALT4	TF binding region
ENSG00000121578	Chromatin interaction
ENSG00000114638	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12630690	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12632242	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12637159	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13077850	0.93[EUR][1000 genomes]
rs13078534	0.93[EUR][1000 genomes]
rs13098335	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584398	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2594728	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2594729	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35625431	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41271389	0.93[EUR][1000 genomes]
rs4234657	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4314161	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4422293	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4422294	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4528932	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4547690	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4591498	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4603947	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55651430	0.93[EUR][1000 genomes]
rs6438504	0.84[EUR][1000 genomes]
rs6438508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67180858	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67395904	0.81[EUR][1000 genomes]
rs6778091	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610070	0.90[EUR][1000 genomes]
rs7612800	0.93[EUR][1000 genomes]
rs7612846	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7622158	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
3	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:118946600-118957800	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
6	chr3:118949000-118958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
8	chr3:118949200-118957600	Weak transcription	Fetal Heart	heart
9	chr3:118949400-118957600	Weak transcription	Right Ventricle	heart
10	chr3:118949400-118958800	Weak transcription	Lung	lung
11	chr3:118949600-118957600	Weak transcription	Ovary	ovary
12	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
13	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
15	chr3:118949600-118958800	Weak transcription	Gastric	stomach
16	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
17	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
18	chr3:118951400-118957800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
20	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:118952200-118957800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:118952200-118957800	Weak transcription	Small Intestine	intestine
23	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:118954200-118957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:118954400-118957600	Weak transcription	Right Atrium	heart
29	chr3:118954600-118957600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:118954600-118957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:118954600-118957800	Weak transcription	Adipose Nuclei	Adipose
32	chr3:118954600-118957800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
34	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:118954800-118957800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:118954800-118958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:118955000-118957600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:118955000-118957600	Weak transcription	Fetal Lung	lung
41	chr3:118955000-118957600	Weak transcription	HepG2	liver
42	chr3:118955000-118957800	Weak transcription	NH-A	brain
43	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
45	chr3:118955200-118957600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:118955200-118957800	Weak transcription	Fetal Thymus	thymus
47	chr3:118955200-118958000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:118955200-118958000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:118955200-118958200	Weak transcription	Fetal Kidney	kidney
50	chr3:118955800-118957800	Weak transcription	Placenta	Placenta

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