Variant report

Variant	rs2966447
Chromosome Location	chr7:5640035-5640036
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5639993-5640296	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:5639891-5640189	K562	blood:	n/a	n/a
3	POLR2A	chr7:5637367-5640337	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:5639853-5640378	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:5639904-5640288	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:5639961-5640269	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5596314..5597931-chr7:5637976..5640574,2	MCF-7	breast:
2	chr7:5638174..5640538-chr7:5702436..5704254,2	K562	blood:
3	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
4	chr7:5464118..5465697-chr7:5637454..5640085,2	K562	blood:
5	chr7:5631570..5634115-chr7:5639263..5640784,2	MCF-7	breast:

No data

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000075618	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1640236	0.86[AFR][1000 genomes]
rs1640238	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1640240	0.80[ASN][1000 genomes]
rs1725182	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2966446	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs55718102	0.83[EUR][1000 genomes]
rs55804712	0.81[EUR][1000 genomes]
rs56113524	0.83[EUR][1000 genomes]
rs852478	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs852479	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][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	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS 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	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5634800-5640200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:5635800-5642800	Weak transcription	Aorta	Aorta
3	chr7:5636200-5642600	Weak transcription	HepG2	liver
4	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
5	chr7:5636400-5640200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:5636400-5642600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:5636600-5643400	Weak transcription	Pancreas	Pancrea
8	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:5636800-5643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:5638000-5640200	Enhancers	Brain Anterior Caudate	brain
12	chr7:5638400-5642800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:5638400-5648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:5638600-5642000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:5638600-5643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:5638800-5642200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:5638800-5642600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:5638800-5643000	Weak transcription	Fetal Lung	lung
20	chr7:5638800-5643000	Weak transcription	Right Ventricle	heart
21	chr7:5638800-5643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:5638800-5644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
25	chr7:5639000-5642600	Weak transcription	Lung	lung
26	chr7:5639000-5642800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:5639000-5642800	Weak transcription	Esophagus	oesophagus
28	chr7:5639000-5643200	Weak transcription	Gastric	stomach
29	chr7:5639000-5643200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:5639200-5640600	Weak transcription	Fetal Brain Male	brain
33	chr7:5639200-5641600	Weak transcription	Osteobl	bone
34	chr7:5639200-5641800	Weak transcription	NHLF	lung
35	chr7:5639200-5642200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:5639200-5642200	Weak transcription	HSMM	muscle
37	chr7:5639200-5642200	Weak transcription	HUVEC	blood vessel
38	chr7:5639200-5642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:5639200-5642600	Weak transcription	Fetal Intestine Large	intestine
40	chr7:5639200-5642600	Weak transcription	NHDF-Ad	bronchial
41	chr7:5639200-5642800	Weak transcription	Colonic Mucosa	Colon
42	chr7:5639200-5642800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:5639200-5643000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:5639200-5643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:5639200-5643000	Weak transcription	HSMMtube	muscle
46	chr7:5639200-5647600	Weak transcription	Stomach Mucosa	stomach
47	chr7:5639400-5641800	Weak transcription	Fetal Intestine Small	intestine
48	chr7:5639400-5642000	Weak transcription	Hela-S3	cervix
49	chr7:5639400-5642600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:5639400-5642800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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