Variant report

Variant	rs66794792
Chromosome Location	chr4:8506272-8506273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:8505779-8506732	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr4:8506118-8507238	K562	blood:	n/a	n/a
3	CTCF	chr4:8506198-8506282	MCF-7	breast:	n/a	n/a
4	TCF12	chr4:8505789-8506674	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
5	ESR1	chr4:8506032-8506400	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr4:8505900-8506485	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr4:8505830-8506588	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr4:8505876-8506726	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
9	ZNF263	chr4:8505867-8506432	HEK293-T-REx	kidney:	n/a	chr4:8506130-8506139 chr4:8506088-8506109
10	NFIC	chr4:8505464-8506730	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr4:8506010-8506799	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr4:8506177-8506295	MCF-7	breast:	n/a	n/a
13	TEAD4	chr4:8505929-8506595	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr4:8505989-8506465	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr4:8505812-8506752	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr4:8505935-8506468	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr4:8506003-8506368	ECC-1	luminal epithelium:	n/a	chr4:8506167-8506181
18	ZBTB7A	chr4:8505844-8506769	ECC-1	luminal epithelium:	n/a	n/a
19	NR3C1	chr4:8506022-8506388	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr4:8505960-8506815	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:
2	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:
3	chr4:8499417..8502342-chr4:8505170..8507298,2	MCF-7	breast:
4	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108233	0.89[EUR][1000 genomes]
rs12108264	0.89[EUR][1000 genomes]
rs12108299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498652	1.00[ASN][1000 genomes]
rs12498856	1.00[ASN][1000 genomes]
rs12499366	1.00[ASN][1000 genomes]
rs12500106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[ASN][1000 genomes]
rs12504328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[ASN][1000 genomes]
rs12506272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[ASN][1000 genomes]
rs12513296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[ASN][1000 genomes]
rs55856487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[ASN][1000 genomes]
rs73209465	1.00[ASN][1000 genomes]
rs73209470	1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[ASN][1000 genomes]
rs73209480	1.00[ASN][1000 genomes]
rs73209481	1.00[ASN][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[ASN][1000 genomes]
rs73211306	1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[ASN][1000 genomes]
rs73211338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211351	0.89[EUR][1000 genomes]
rs73211354	0.89[EUR][1000 genomes]
rs73211357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	1.00[EUR][1000 genomes]
rs73211394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	1.00[EUR][1000 genomes]
rs73213426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:8501800-8510600	Enhancers	Ovary	ovary
12	chr4:8502800-8512800	Enhancers	Placenta	Placenta
13	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
14	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
15	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
16	chr4:8504200-8506400	Enhancers	Left Ventricle	heart
17	chr4:8504200-8506400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr4:8504200-8506600	Enhancers	Pancreas	Pancrea
19	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:8504200-8509400	Enhancers	Right Atrium	heart
21	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:8504400-8506400	Enhancers	Lung	lung
23	chr4:8504400-8506600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:8504400-8507400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr4:8504600-8506400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:8504600-8507200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:8504600-8507600	Weak transcription	Fetal Kidney	kidney
28	chr4:8504600-8510800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:8504800-8507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:8505000-8508000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:8505200-8506400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:8505200-8506400	Enhancers	Brain Substantia Nigra	brain
33	chr4:8505200-8506400	Enhancers	Fetal Brain Female	brain
34	chr4:8505200-8507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:8505200-8507800	Weak transcription	Brain Anterior Caudate	brain
36	chr4:8505200-8508000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:8505400-8507800	Weak transcription	HSMM	muscle
38	chr4:8505400-8509000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:8505600-8507800	Weak transcription	NHDF-Ad	bronchial
40	chr4:8505800-8506400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr4:8505800-8506400	Enhancers	Esophagus	oesophagus
42	chr4:8505800-8506400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr4:8505800-8506600	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:8505800-8506600	Enhancers	Colon Smooth Muscle	Colon
45	chr4:8505800-8507800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:8505800-8509600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:8505800-8509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:8506000-8506400	Enhancers	Fetal Intestine Large	intestine
49	chr4:8506000-8507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:8506000-8509000	Enhancers	Spleen	Spleen

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