Variant report

Variant	rs56962018
Chromosome Location	chr3:50340065-50340066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50339436-50341410	Hela-S3	cervix:	n/a	n/a
2	MAX	chr3:50339747-50341427	HepG2	liver:	n/a	chr3:50341173-50341183
3	MAX	chr3:50339864-50341269	HepG2	liver:	n/a	chr3:50341173-50341183
4	POLR2A	chr3:50339443-50341454	HepG2	liver:	n/a	n/a
5	EP300	chr3:50340059-50341146	HepG2	liver:	n/a	n/a
6	HEY1	chr3:50340056-50341376	HepG2	liver:	n/a	n/a
7	SMARCB1	chr3:50339518-50341326	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr3:50339974-50340119	HepG2	liver:	n/a	n/a
9	MYBL2	chr3:50339899-50341224	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:50335462-50341765	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:50339587-50340156	K562	blood:	n/a	n/a
12	POLR2A	chr3:50339719-50341388	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:50339328-50341436	HepG2	liver:	n/a	n/a
14	MAX	chr3:50339429-50341414	HepG2	liver:	n/a	chr3:50341173-50341183
15	CHD2	chr3:50340058-50340124	K562	blood:	n/a	n/a
16	MXI1	chr3:50339958-50341368	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:50339957-50341407	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50339705..50341283-chr3:50377540..50380265,2	K562	blood:
2	chr3:50327926..50342388-chr3:50350886..50359960,36	MCF-7	breast:
3	chr3:50324564..50342616-chr3:50350801..50362499,49	MCF-7	breast:
4	chr3:50334885..50342502-chr3:50352987..50366859,26	K562	blood:
5	chr3:50335131..50340487-chr3:50360694..50367461,13	K562	blood:
6	chr3:50334334..50341950-chr3:50357130..50360296,11	K562	blood:

No data

Variant related genes	Relation type
HYAL3	TF binding region
NAT6	TF binding region
ENSG00000068001	Chromatin interaction
ENSG00000004838	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000235058	Chromatin interaction
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61121908	1.00[AFR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50337600-50340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:50337800-50340200	Enhancers	Stomach Mucosa	stomach
3	chr3:50337800-50340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:50337800-50340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:50337800-50353800	Weak transcription	HSMMtube	muscle
6	chr3:50338000-50340400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:50338000-50340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:50338000-50340400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:50338000-50340600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:50338000-50340600	Enhancers	Esophagus	oesophagus
11	chr3:50338000-50341600	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:50338000-50342200	Weak transcription	NH-A	brain
13	chr3:50338000-50343600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:50338000-50352400	Weak transcription	Fetal Kidney	kidney
15	chr3:50338200-50340200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:50338200-50340200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:50338200-50340200	Enhancers	Brain Hippocampus Middle	brain
18	chr3:50338200-50340200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:50338200-50340200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:50338200-50340200	Weak transcription	A549	lung
21	chr3:50338200-50340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:50338200-50340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:50338200-50340400	Enhancers	Adipose Nuclei	Adipose
24	chr3:50338200-50340600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:50338200-50340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:50338200-50340800	Weak transcription	NHLF	lung
27	chr3:50338200-50342000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:50338200-50343000	Weak transcription	Fetal Thymus	thymus
29	chr3:50338200-50344400	Weak transcription	Brain Germinal Matrix	brain
30	chr3:50338200-50352800	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:50338200-50353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:50338200-50353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:50338200-50353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:50338200-50356000	Weak transcription	Primary T cells from cord blood	blood
35	chr3:50338400-50340200	Weak transcription	Fetal Lung	lung
36	chr3:50338400-50340600	Weak transcription	Brain Substantia Nigra	brain
37	chr3:50338400-50340600	Weak transcription	HMEC	breast
38	chr3:50338400-50341400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:50338400-50352800	Weak transcription	Brain Anterior Caudate	brain
40	chr3:50338600-50340200	Weak transcription	Colonic Mucosa	Colon
41	chr3:50338600-50340200	Enhancers	K562	blood
42	chr3:50338600-50341000	Weak transcription	Fetal Brain Female	brain
43	chr3:50338600-50342000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:50338600-50355600	Weak transcription	Fetal Brain Male	brain
45	chr3:50338600-50355800	Weak transcription	Brain Angular Gyrus	brain
46	chr3:50338800-50340200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:50338800-50340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:50338800-50340400	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:50338800-50340600	Weak transcription	HUVEC	blood vessel
50	chr3:50338800-50340600	Weak transcription	NHDF-Ad	bronchial

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