Variant report

Variant	rs6785453
Chromosome Location	chr3:118956506-118956507
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	GATA3	chr3:118956053-118956718	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:
2	chr3:118954843..118957176-chr3:119215915..119217953,2	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
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11926244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11928941	0.82[EUR][1000 genomes]
rs16829552	0.86[EUR][1000 genomes]
rs58488777	0.82[EUR][1000 genomes]
rs59654162	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61238501	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61253016	0.84[EUR][1000 genomes]
rs6799417	0.91[EUR][1000 genomes]
rs6805447	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645297	0.92[AMR][1000 genomes];1.00[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	chr3:118929200-118956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
4	chr3:118931600-118957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:118946600-118957800	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:118946800-118957200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
9	chr3:118949000-118958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
11	chr3:118949200-118957600	Weak transcription	Fetal Heart	heart
12	chr3:118949400-118957600	Weak transcription	Right Ventricle	heart
13	chr3:118949400-118958800	Weak transcription	Lung	lung
14	chr3:118949600-118957600	Weak transcription	Ovary	ovary
15	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
16	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:118949600-118958800	Weak transcription	Gastric	stomach
19	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
20	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
21	chr3:118951400-118957800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
23	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:118952200-118957400	Weak transcription	Thymus	Thymus
25	chr3:118952200-118957800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:118952200-118957800	Weak transcription	Small Intestine	intestine
27	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:118953600-118956600	Transcr. at gene 5' and 3'	A549	lung
31	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:118953800-118957200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:118954000-118956600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr3:118954000-118956800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:118954200-118957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:118954400-118957600	Weak transcription	Right Atrium	heart
37	chr3:118954600-118957600	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:118954600-118957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:118954600-118957800	Weak transcription	Adipose Nuclei	Adipose
40	chr3:118954600-118957800	Weak transcription	Brain Angular Gyrus	brain
41	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
42	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:118954800-118957400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:118954800-118957400	Weak transcription	Stomach Mucosa	stomach
46	chr3:118954800-118957800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:118954800-118958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:118955000-118957600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:118955000-118957600	Weak transcription	Fetal Lung	lung

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