Variant report

Variant	rs6798741
Chromosome Location	chr3:119048129-119048130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119040997..119045560-chr3:119046722..119050872,5	K562	blood:
2	chr3:119040533..119045560-chr3:119045561..119050872,12	K562	blood:
3	chr3:119041366..119045154-chr3:119046425..119049987,5	MCF-7	breast:
4	chr3:119045537..119049626-chr3:119052248..119055183,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11926284	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12486987	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12493383	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12496059	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12496088	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2044621	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687995	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61668793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438523	0.81[AFR][1000 genomes]
rs6762580	0.81[AFR][1000 genomes]
rs6784281	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9830650	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9863675	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119048200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:119042600-119048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:119042600-119048400	Weak transcription	Aorta	Aorta
4	chr3:119042600-119048600	Weak transcription	HSMM	muscle
5	chr3:119042600-119050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:119042600-119050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:119042600-119050400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:119042600-119050400	Weak transcription	HSMMtube	muscle
9	chr3:119042600-119050400	Weak transcription	NHEK	skin
10	chr3:119042600-119054000	Weak transcription	NHLF	lung
11	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
12	chr3:119042800-119050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:119042800-119050600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
16	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
21	chr3:119043000-119048600	Weak transcription	Right Ventricle	heart
22	chr3:119043000-119050600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:119043000-119051600	Weak transcription	HUVEC	blood vessel
24	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
25	chr3:119043200-119062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:119043600-119048400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:119043800-119048600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:119043800-119050200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:119044400-119050400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:119044400-119050600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:119044400-119052000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:119045800-119050400	Weak transcription	Adipose Nuclei	Adipose
33	chr3:119045800-119050400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:119046000-119048400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:119046000-119052800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:119046000-119056000	Weak transcription	Fetal Thymus	thymus
37	chr3:119046000-119064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:119046000-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:119046600-119048400	Enhancers	Brain Hippocampus Middle	brain
40	chr3:119046800-119056000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:119047000-119053800	Enhancers	Fetal Stomach	stomach
42	chr3:119047200-119048400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:119047200-119048600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:119047200-119052000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:119047400-119048200	Weak transcription	Brain Substantia Nigra	brain
46	chr3:119047400-119050400	Weak transcription	GM12878-XiMat	blood
47	chr3:119047600-119048600	Enhancers	Brain Cingulate Gyrus	brain
48	chr3:119047800-119048800	Strong transcription	Osteobl	bone
49	chr3:119047800-119049400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr3:119047800-119053600	Enhancers	Ovary	ovary

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