Variant report

Variant	rs6854153
Chromosome Location	chr4:8505798-8505799
allele	A/C
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	EP300	chr4:8505779-8506732	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr4:8505518-8505928	ECC-1	luminal epithelium:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
3	RAD21	chr4:8505634-8505833	H1-hESC	embryonic stem cell:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
4	TCF12	chr4:8505789-8506674	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
5	CTCF	chr4:8505680-8505830	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
6	HMGN3	chr4:8505610-8505799	K562	blood:	n/a	n/a
7	CTCF	chr4:8505659-8505826	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
8	RAD21	chr4:8505503-8505920	H1-hESC	embryonic stem cell:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
9	NFIC	chr4:8505464-8506730	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr4:8505651-8505813	H1-hESC	embryonic stem cell:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
11	CTCF	chr4:8505600-8505868	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749

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

Variant related genes	Relation type
ENSG00000205959	TF binding region

Extended variants
information (count: 26 )
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]
rs6855488	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:5 , 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	esv3377450	chr4:8502852-8506150	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
3	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:8501800-8510600	Enhancers	Ovary	ovary
16	chr4:8502800-8505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:8502800-8512800	Enhancers	Placenta	Placenta
18	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
19	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
20	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
21	chr4:8503800-8505800	Enhancers	Fetal Lung	lung
22	chr4:8504000-8506200	Enhancers	Fetal Heart	heart
23	chr4:8504200-8506200	Enhancers	Fetal Brain Male	brain
24	chr4:8504200-8506400	Enhancers	Left Ventricle	heart
25	chr4:8504200-8506400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr4:8504200-8506600	Enhancers	Pancreas	Pancrea
27	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:8504200-8509400	Enhancers	Right Atrium	heart
29	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:8504400-8506200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:8504400-8506400	Enhancers	Lung	lung
32	chr4:8504400-8506600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:8504400-8507400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr4:8504600-8506000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:8504600-8506000	Weak transcription	Fetal Intestine Large	intestine
36	chr4:8504600-8506400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:8504600-8507200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:8504600-8507600	Weak transcription	Fetal Kidney	kidney
39	chr4:8504600-8510800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:8504800-8505800	Enhancers	Brain Germinal Matrix	brain
41	chr4:8504800-8505800	Weak transcription	Esophagus	oesophagus
42	chr4:8504800-8506200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr4:8504800-8506200	Weak transcription	HSMMtube	muscle
44	chr4:8504800-8507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:8505000-8508000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:8505200-8506400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:8505200-8506400	Enhancers	Brain Substantia Nigra	brain
48	chr4:8505200-8506400	Enhancers	Fetal Brain Female	brain
49	chr4:8505200-8507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:8505200-8507800	Weak transcription	Brain Anterior Caudate	brain

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