Variant report

Variant	rs6855488
Chromosome Location	chr4:8506482-8506483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 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	TCF12	chr4:8505789-8506674	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
4	TEAD4	chr4:8505900-8506485	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr4:8505830-8506588	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr4:8505876-8506726	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
7	NFIC	chr4:8505464-8506730	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr4:8506010-8506799	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr4:8506414-8506734	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr4:8506436-8506843	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr4:8505929-8506595	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr4:8506439-8506817	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr4:8505812-8506752	ECC-1	luminal epithelium:	n/a	n/a
14	ZBTB7A	chr4:8505844-8506769	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr4:8505960-8506815	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:8498123..8500167-chr4:8506357..8507950,2	MCF-7	breast:
2	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:
3	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:
4	chr4:8499417..8502342-chr4:8505170..8507298,2	MCF-7	breast:
5	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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10002453	1.00[ASN][1000 genomes]
rs1357482	1.00[ASN][1000 genomes]
rs1568694	1.00[ASN][1000 genomes]
rs16842165	1.00[ASN][1000 genomes]
rs28551127	1.00[ASN][1000 genomes]
rs28627156	1.00[ASN][1000 genomes]
rs28647682	1.00[ASN][1000 genomes]
rs58141973	1.00[ASN][1000 genomes]
rs58250358	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59065368	1.00[ASN][1000 genomes]
rs61738667	1.00[ASN][1000 genomes]
rs62287391	1.00[ASN][1000 genomes]
rs6814163	1.00[ASN][1000 genomes]
rs6815431	1.00[ASN][1000 genomes]
rs6826283	1.00[ASN][1000 genomes]
rs6826302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843048	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6853292	1.00[ASN][1000 genomes]
rs6854153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954272	1.00[ASN][1000 genomes]
rs9995201	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:54 , 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	chr4:8504200-8506600	Enhancers	Pancreas	Pancrea
17	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:8504200-8509400	Enhancers	Right Atrium	heart
19	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:8504400-8506600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:8504400-8507400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr4:8504600-8507200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:8504600-8507600	Weak transcription	Fetal Kidney	kidney
24	chr4:8504600-8510800	Enhancers	Fetal Muscle Leg	muscle
25	chr4:8504800-8507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:8505000-8508000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:8505200-8507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:8505200-8507800	Weak transcription	Brain Anterior Caudate	brain
29	chr4:8505200-8508000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:8505400-8507800	Weak transcription	HSMM	muscle
31	chr4:8505400-8509000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:8505600-8507800	Weak transcription	NHDF-Ad	bronchial
33	chr4:8505800-8506600	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:8505800-8506600	Enhancers	Colon Smooth Muscle	Colon
35	chr4:8505800-8507800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:8505800-8509600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:8505800-8509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:8506000-8507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:8506000-8509000	Enhancers	Spleen	Spleen
40	chr4:8506200-8507400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:8506200-8507600	Weak transcription	Fetal Brain Male	brain
42	chr4:8506200-8507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8506200-8507800	Weak transcription	Colonic Mucosa	Colon
44	chr4:8506200-8508200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:8506200-8509600	Enhancers	HSMMtube	muscle
46	chr4:8506400-8506800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:8506400-8507200	Enhancers	Brain Germinal Matrix	brain
48	chr4:8506400-8507200	Active TSS	Gastric	stomach
49	chr4:8506400-8507600	Weak transcription	Fetal Lung	lung
50	chr4:8506400-8507800	Weak transcription	Brain Inferior Temporal Lobe	brain

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