Variant report

Variant	rs6767078
Chromosome Location	chr3:118957913-118957914
allele	A/T
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	WRNIP1	chr3:118957897-118958092	GM12878	blood:	n/a	n/a
2	CEBPB	chr3:118957348-118957926	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:118957609..118959509-chr3:119217273..119218823,2	MCF-7	breast:
2	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:
3	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
4	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:

Variant related genes	Relation type
B4GALT4	TF binding region
ENSG00000113845	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000114638	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2084454	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4687841	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438509	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6438510	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625069	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
5	chr3:118949000-118958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
7	chr3:118949400-118958800	Weak transcription	Lung	lung
8	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
11	chr3:118949600-118958800	Weak transcription	Gastric	stomach
12	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
13	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
14	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
15	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
21	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:118954800-118958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
27	chr3:118955200-118958000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:118955200-118958000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:118955200-118958200	Weak transcription	Fetal Kidney	kidney
30	chr3:118955800-118958200	Weak transcription	HUVEC	blood vessel
31	chr3:118955800-118958600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:118956000-118958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:118956000-118958200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:118956000-118958200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:118956000-118958400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:118956000-118958400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:118956000-118958600	Weak transcription	Left Ventricle	heart
38	chr3:118956000-118958600	Weak transcription	Psoas Muscle	Psoas
39	chr3:118956000-118958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:118956000-118958800	Weak transcription	Pancreas	Pancrea
41	chr3:118956200-118958000	Weak transcription	K562	blood
42	chr3:118956200-118958200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:118956800-118960000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:118956800-118960000	Active TSS	A549	lung
45	chr3:118957200-118958000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:118957200-118958000	Flanking Active TSS	NHEK	skin
47	chr3:118957200-118958200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr3:118957200-118958400	Active TSS	Duodenum Mucosa	Duodenum
49	chr3:118957200-118958400	Enhancers	Dnd41	blood
50	chr3:118957200-118958600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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