Variant report

Variant	rs9842789
Chromosome Location	chr3:118957370-118957371
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	CEBPB	chr3:118957134-118957770	IMR90	lung:	n/a	chr3:118957149-118957162 chr3:118957149-118957162 chr3:118957150-118957161 chr3:118957148-118957165
2	NFIC	chr3:118957175-118957578	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:118957131-118957776	K562	blood:	n/a	chr3:118957149-118957162 chr3:118957149-118957162 chr3:118957150-118957161 chr3:118957148-118957165
4	CEBPB	chr3:118957348-118957926	A549	lung:	n/a	n/a
5	TBL1XR1	chr3:118957343-118957582	K562	blood:	n/a	n/a
6	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
ENSG00000114638	Chromatin interaction
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12690556	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12695383	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13091429	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28668839	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28885082	0.84[AMR][1000 genomes]
rs4687843	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59448071	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6808238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68103027	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7628585	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9869645	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9878996	0.84[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	chr3:118931600-118957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:118946600-118957800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
7	chr3:118949000-118958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
9	chr3:118949200-118957600	Weak transcription	Fetal Heart	heart
10	chr3:118949400-118957600	Weak transcription	Right Ventricle	heart
11	chr3:118949400-118958800	Weak transcription	Lung	lung
12	chr3:118949600-118957600	Weak transcription	Ovary	ovary
13	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
16	chr3:118949600-118958800	Weak transcription	Gastric	stomach
17	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
18	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
19	chr3:118951400-118957800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
21	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:118952200-118957400	Weak transcription	Thymus	Thymus
23	chr3:118952200-118957800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:118952200-118957800	Weak transcription	Small Intestine	intestine
25	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:118954200-118957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:118954400-118957600	Weak transcription	Right Atrium	heart
31	chr3:118954600-118957600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:118954600-118957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:118954600-118957800	Weak transcription	Adipose Nuclei	Adipose
34	chr3:118954600-118957800	Weak transcription	Brain Angular Gyrus	brain
35	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
36	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:118954800-118957400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:118954800-118957400	Weak transcription	Stomach Mucosa	stomach
40	chr3:118954800-118957800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:118954800-118958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:118955000-118957600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:118955000-118957600	Weak transcription	Fetal Lung	lung
45	chr3:118955000-118957600	Weak transcription	HepG2	liver
46	chr3:118955000-118957800	Weak transcription	NH-A	brain
47	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
49	chr3:118955200-118957600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:118955200-118957800	Weak transcription	Fetal Thymus	thymus

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