Variant report

Variant	rs530096
Chromosome Location	chr4:75027249-75027250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:75026936..75029499-chr4:75048728..75050927,2	K562	blood:
2	chr4:74527976..74529636-chr4:75025474..75027779,2	K562	blood:
3	chr4:75024505..75027399-chr4:75144223..75145811,2	K562	blood:
4	chr4:75015320..75016851-chr4:75026469..75028278,2	K562	blood:
5	chr4:75023931..75025706-chr4:75026268..75029648,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPGN-4	chr4:75025772-75027969	NONHSAT096885

No data

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000269559	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs476893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477628	1.00[AMR][1000 genomes]
rs480956	1.00[AMR][1000 genomes]
rs481763	1.00[AMR][1000 genomes]
rs486172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487335	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs490645	1.00[AMR][1000 genomes]
rs493135	1.00[AMR][1000 genomes]
rs493800	1.00[AMR][1000 genomes]
rs495740	1.00[AMR][1000 genomes]
rs513726	1.00[AMR][1000 genomes]
rs514044	1.00[AMR][1000 genomes]
rs515780	1.00[AMR][1000 genomes]
rs516508	1.00[AMR][1000 genomes]
rs531683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs557131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567157	1.00[AMR][1000 genomes]
rs568187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579228	1.00[AMR][1000 genomes]
rs6825147	1.00[AMR][1000 genomes]
rs6840665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024400-75032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:75024600-75030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:75024600-75034000	Weak transcription	Gastric	stomach
4	chr4:75024800-75029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:75024800-75032000	Weak transcription	Placenta	Placenta
6	chr4:75024800-75032400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:75024800-75032600	Weak transcription	Lung	lung
8	chr4:75024800-75033800	Weak transcription	Esophagus	oesophagus
9	chr4:75024800-75033800	Weak transcription	Stomach Mucosa	stomach
10	chr4:75024800-75034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:75024800-75037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:75024800-75056600	Weak transcription	Pancreas	Pancrea
13	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
14	chr4:75025000-75027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:75025000-75029000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:75025000-75032400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:75025000-75033600	Weak transcription	Fetal Stomach	stomach
18	chr4:75025000-75034000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:75025000-75046800	Weak transcription	NHDF-Ad	bronchial
20	chr4:75025200-75027800	Weak transcription	Brain Anterior Caudate	brain
21	chr4:75025200-75028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:75025200-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:75025200-75041800	Weak transcription	Aorta	Aorta
24	chr4:75025200-75042600	Weak transcription	Brain Substantia Nigra	brain
25	chr4:75025400-75027400	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:75025400-75027400	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:75025400-75027400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:75025400-75027400	Weak transcription	HSMMtube	muscle
29	chr4:75025400-75027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:75025400-75027600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:75025400-75028200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:75025400-75028400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:75025400-75028800	Weak transcription	Fetal Kidney	kidney
34	chr4:75025400-75028800	Weak transcription	Fetal Lung	lung
35	chr4:75025400-75029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:75025400-75029000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:75025400-75029400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:75025400-75031400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:75025400-75032000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:75025400-75032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:75025400-75032800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:75025400-75034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:75025400-75035000	Weak transcription	NHLF	lung
44	chr4:75025400-75067600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:75025400-75073600	Weak transcription	Right Ventricle	heart
46	chr4:75025600-75027400	Weak transcription	Adipose Nuclei	Adipose
47	chr4:75025600-75028000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:75025600-75029000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:75025600-75031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:75025600-75054200	Weak transcription	Ovary	ovary

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