Variant report

Variant	rs6794165
Chromosome Location	chr3:178748268-178748269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178743208..178744872-chr3:178748172..178749949,2	K562	blood:
2	chr3:178741511..178744382-chr3:178747703..178750492,2	K562	blood:
3	chr3:178577358..178579188-chr3:178747184..178750158,2	K562	blood:
4	chr3:178746545..178749111-chr3:178752950..178755283,2	MCF-7	breast:
5	chr3:178747112..178748794-chr3:179040862..179042416,2	K562	blood:
6	chr3:178741058..178743011-chr3:178747228..178749203,2	K562	blood:

Variant related genes	Relation type
ENSG00000121864	Chromatin interaction
ENSG00000237978	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11711320	0.86[AMR][1000 genomes]
rs4245914	0.86[AMR][1000 genomes]
rs4279147	0.82[AMR][1000 genomes]
rs4377525	0.86[AMR][1000 genomes]
rs4395442	0.84[AMR][1000 genomes]
rs4417911	0.86[AMR][1000 genomes]
rs4469018	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4552405	0.86[AMR][1000 genomes]
rs4579062	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4607155	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4632588	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4637331	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4955810	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56115013	0.86[AMR][1000 genomes]
rs6443614	0.86[AMR][1000 genomes]
rs6443617	0.84[AMR][1000 genomes]
rs6772028	0.87[AMR][1000 genomes]
rs6790867	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6793769	0.86[AMR][1000 genomes]
rs6793893	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6794956	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6795238	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6800015	0.84[AMR][1000 genomes]
rs7612363	0.86[AMR][1000 genomes]
rs7639391	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9830482	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9835752	0.84[AMR][1000 genomes]
rs9835765	0.86[AMR][1000 genomes]
rs9860318	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9860749	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9880749	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1009143	chr3:178731525-178783915	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv1799481	chr3:178733212-178782021	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178716400-178755000	Weak transcription	Pancreas	Pancrea
2	chr3:178722200-178751600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:178723400-178749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:178723800-178754200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:178733400-178751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:178733800-178754600	Weak transcription	Lung	lung
7	chr3:178734000-178755200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:178734000-178755400	Weak transcription	HepG2	liver
9	chr3:178735000-178763800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:178735800-178751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:178738000-178764000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:178738200-178751600	Weak transcription	Stomach Mucosa	stomach
13	chr3:178738600-178748400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:178738600-178751600	Weak transcription	Adipose Nuclei	Adipose
15	chr3:178738600-178751600	Weak transcription	Gastric	stomach
16	chr3:178738600-178751600	Weak transcription	Ovary	ovary
17	chr3:178738600-178754800	Weak transcription	Spleen	Spleen
18	chr3:178738600-178755000	Weak transcription	Aorta	Aorta
19	chr3:178738600-178757000	Weak transcription	Fetal Stomach	stomach
20	chr3:178738800-178748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:178738800-178754400	Weak transcription	Psoas Muscle	Psoas
22	chr3:178738800-178755800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:178738800-178757000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:178739400-178751400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:178739600-178755800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:178739800-178754200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:178740000-178750800	Weak transcription	HUVEC	blood vessel
28	chr3:178741600-178749200	Weak transcription	Fetal Intestine Large	intestine
29	chr3:178741600-178750000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:178743000-178754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:178743200-178754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:178744600-178749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:178744800-178748400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:178745200-178749000	Weak transcription	Fetal Intestine Small	intestine
35	chr3:178745400-178754800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:178745400-178755600	Weak transcription	NHLF	lung
37	chr3:178745600-178748400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:178745600-178753800	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:178745600-178754400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:178745600-178755000	Weak transcription	Left Ventricle	heart
41	chr3:178745600-178758400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:178745600-178771800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr3:178745800-178748400	Weak transcription	Primary B cells from cord blood	blood
44	chr3:178745800-178748400	Weak transcription	Dnd41	blood
45	chr3:178745800-178754200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:178745800-178754200	Weak transcription	NHDF-Ad	bronchial
47	chr3:178745800-178755200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:178746000-178751400	Weak transcription	HSMMtube	muscle
49	chr3:178746000-178753600	Weak transcription	NH-A	brain
50	chr3:178746000-178756400	Weak transcription	Primary B cells from peripheral blood	blood

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