Variant report

Variant	rs6790729
Chromosome Location	chr3:50350751-50350752
allele	G/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	POLR2A	chr3:50350725-50350907	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:50350469-50350889	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:

Variant related genes	Relation type
HYAL1	TF binding region
ENSG00000232352	Chromatin interaction
ENSG00000012171	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11554989	1.00[AMR][1000 genomes]
rs13072164	1.00[AMR][1000 genomes]
rs34797487	1.00[AMR][1000 genomes]
rs35968178	1.00[AMR][1000 genomes]
rs451039	1.00[AMR][1000 genomes]
rs637431	1.00[AMR][1000 genomes]
rs6777625	1.00[AMR][1000 genomes]
rs6779184	1.00[AMR][1000 genomes]
rs6788251	1.00[AMR][1000 genomes]
rs6791799	1.00[AMR][1000 genomes]
rs6792611	1.00[AMR][1000 genomes]
rs6792754	1.00[AMR][1000 genomes]
rs6807067	1.00[AMR][1000 genomes]
rs7610897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
10	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
12	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
14	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
18	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
19	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
20	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
21	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50337800-50353800	Weak transcription	HSMMtube	muscle
2	chr3:50338000-50352400	Weak transcription	Fetal Kidney	kidney
3	chr3:50338200-50352800	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:50338200-50353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:50338200-50353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:50338200-50353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:50338200-50356000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:50338400-50352800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:50338600-50355600	Weak transcription	Fetal Brain Male	brain
10	chr3:50338600-50355800	Weak transcription	Brain Angular Gyrus	brain
11	chr3:50338800-50352600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:50338800-50353800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:50338800-50354000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:50339200-50353000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:50340800-50354200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:50340800-50355400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:50341000-50351800	Weak transcription	Right Ventricle	heart
18	chr3:50341000-50352800	Weak transcription	Fetal Lung	lung
19	chr3:50341000-50353400	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:50341000-50353800	Weak transcription	Colonic Mucosa	Colon
21	chr3:50341000-50353800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:50341000-50353800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:50341000-50353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:50341200-50351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:50341200-50352200	Weak transcription	HUVEC	blood vessel
26	chr3:50341400-50351600	Weak transcription	Esophagus	oesophagus
27	chr3:50341400-50351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:50341400-50351800	Weak transcription	Psoas Muscle	Psoas
29	chr3:50341400-50351800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:50341400-50352000	Weak transcription	Gastric	stomach
31	chr3:50341400-50352000	Weak transcription	Left Ventricle	heart
32	chr3:50341400-50352400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:50341400-50352400	Weak transcription	NHLF	lung
34	chr3:50341400-50353800	Weak transcription	Ovary	ovary
35	chr3:50341400-50354000	Weak transcription	Right Atrium	heart
36	chr3:50341400-50354200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:50341400-50355600	Weak transcription	Brain Substantia Nigra	brain
38	chr3:50341400-50357600	Weak transcription	NHDF-Ad	bronchial
39	chr3:50342400-50350800	Weak transcription	K562	blood
40	chr3:50342400-50351800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:50342600-50357000	Weak transcription	HSMM	muscle
42	chr3:50342800-50351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:50345800-50351600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:50345800-50351800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:50345800-50352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:50345800-50352400	Weak transcription	Pancreas	Pancrea
47	chr3:50346200-50352600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:50346800-50352400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:50347200-50350800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:50347200-50351600	Weak transcription	Fetal Stomach	stomach

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