Variant report

Variant	rs73223254
Chromosome Location	chr4:8480511-8480512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:8480458-8481230	K562	blood:	n/a	n/a
2	POLR2A	chr4:8478856-8480731	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:8480418-8480544	A549	lung:	n/a	n/a
4	POLR2A	chr4:8478899-8482832	K562	blood:	n/a	n/a
5	POLR2A	chr4:8480506-8480548	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:8479786-8480902	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:8480078-8481680	K562	blood:	n/a	n/a
8	JUN	chr4:8479875-8481512	K562	blood:	n/a	n/a
9	HMGN3	chr4:8480483-8481257	K562	blood:	n/a	n/a
10	POLR2A	chr4:8479870-8480945	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:8479181-8480551	K562	blood:	n/a	n/a
12	POLR2A	chr4:8480434-8480588	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:8473752..8477708-chr4:8479447..8482230,3	K562	blood:
2	chr4:8474636..8476895-chr4:8480359..8482946,2	K562	blood:
3	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
4	chr4:8479058..8480948-chr4:8481115..8485111,3	MCF-7	breast:
5	chr4:8478212..8480998-chr4:8552903..8554781,2	K562	blood:
6	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155275	Chromatin interaction
ENSG00000205959	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3338691	chr4:8479502-8482000	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
2	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
3	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:8471200-8480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:8471800-8480800	Weak transcription	HepG2	liver
6	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:8472200-8480800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:8474600-8480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:8475600-8481400	Strong transcription	Fetal Brain Female	brain
11	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
12	chr4:8475800-8481200	Weak transcription	NHLF	lung
13	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:8476000-8480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:8476000-8481400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:8476200-8480600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:8476200-8480600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:8476200-8481800	Strong transcription	Fetal Stomach	stomach
19	chr4:8476400-8481400	Strong transcription	Right Ventricle	heart
20	chr4:8476600-8481200	Genic enhancers	Placenta	Placenta
21	chr4:8476600-8481400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:8476600-8481400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:8476600-8481400	Strong transcription	Lung	lung
24	chr4:8476600-8481800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr4:8476800-8480600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr4:8476800-8481200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:8476800-8481200	Strong transcription	Fetal Intestine Small	intestine
28	chr4:8476800-8481400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:8476800-8481600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:8477200-8480600	Strong transcription	Thymus	Thymus
31	chr4:8477400-8481800	Strong transcription	Fetal Muscle Leg	muscle
32	chr4:8477600-8481200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr4:8477800-8481400	Genic enhancers	Ovary	ovary
34	chr4:8477800-8482800	Weak transcription	Fetal Lung	lung
35	chr4:8478000-8481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:8478200-8480600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:8478200-8481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:8478200-8482000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:8478200-8491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:8478400-8480600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:8478400-8482000	Weak transcription	Fetal Thymus	thymus
43	chr4:8478400-8482400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:8478600-8480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:8478600-8481000	Weak transcription	Osteobl	bone
46	chr4:8478600-8481800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:8478600-8490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:8478800-8480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:8478800-8481000	Weak transcription	Primary monocytes fromperipheralblood	blood

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