Variant report

Variant	rs530353
Chromosome Location	chr4:75028871-75028872
allele	A/G
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:0)
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	chr4:75010641..75013526-chr4:75028499..75030027,2	K562	blood:
2	chr4:75026936..75029499-chr4:75048728..75050927,2	K562	blood:
3	chr4:75028000..75030668-chr4:75031442..75033767,3	MCF-7	breast:
4	chr4:75023724..75025558-chr4:75028455..75031389,3	MCF-7	breast:
5	chr4:75023931..75025706-chr4:75026268..75029648,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000163738	Chromatin interaction
ENSG00000269559	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs514451	1.00[AFR][1000 genomes]
rs567157	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3449125	chr4:75028812-75029047	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

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	chr4:75025000-75029000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:75025000-75032400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:75025000-75033600	Weak transcription	Fetal Stomach	stomach
17	chr4:75025000-75034000	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:75025000-75046800	Weak transcription	NHDF-Ad	bronchial
19	chr4:75025200-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:75025200-75041800	Weak transcription	Aorta	Aorta
21	chr4:75025200-75042600	Weak transcription	Brain Substantia Nigra	brain
22	chr4:75025400-75029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:75025400-75029000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:75025400-75029400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:75025400-75031400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:75025400-75032000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:75025400-75032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:75025400-75032800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:75025400-75034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:75025400-75035000	Weak transcription	NHLF	lung
31	chr4:75025400-75067600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:75025400-75073600	Weak transcription	Right Ventricle	heart
33	chr4:75025600-75029000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:75025600-75031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:75025600-75054200	Weak transcription	Ovary	ovary
36	chr4:75025600-75067600	Weak transcription	Thymus	Thymus
37	chr4:75025800-75029000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:75025800-75029000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:75025800-75029400	Weak transcription	Small Intestine	intestine
40	chr4:75025800-75029600	Weak transcription	Fetal Intestine Large	intestine
41	chr4:75025800-75030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:75025800-75032000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:75025800-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:75025800-75032400	Weak transcription	Spleen	Spleen
45	chr4:75025800-75034400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:75025800-75049200	Weak transcription	Psoas Muscle	Psoas
47	chr4:75026000-75029000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:75026000-75029200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:75026400-75029000	Strong transcription	Primary B cells from cord blood	blood
50	chr4:75026400-75029200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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