Variant report

Variant	rs1365613
Chromosome Location	chr4:175442822-175442823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175441347..175443047-chr4:175456721..175458748,2	K562	blood:
2	chr1:99961025..99961526-chr4:175442445..175442945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251584	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12644138	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12647154	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12647906	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12649903	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2555645	0.88[EUR][1000 genomes]
rs2555646	0.88[EUR][1000 genomes]
rs3797009	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797010	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4516687	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880970	chr4:175434394-175444006	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr4:175427400-175443000	Weak transcription	Lung	lung
2	chr4:175440000-175444000	Active TSS	Liver	Liver
3	chr4:175440800-175443000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:175441000-175443000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:175441000-175443000	Weak transcription	Spleen	Spleen
7	chr4:175441600-175444200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:175442000-175444800	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:175442000-175445200	Active TSS	A549	lung
10	chr4:175442400-175443000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr4:175442400-175443400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr4:175442400-175443600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr4:175442400-175444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:175442400-175445400	Active TSS	Fetal Intestine Large	intestine
15	chr4:175442600-175443000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:175442600-175443000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:175442600-175443000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr4:175442600-175443000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr4:175442600-175443000	Active TSS	Thymus	Thymus
20	chr4:175442600-175443200	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr4:175442600-175444000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:175442600-175444200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:175442600-175444400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:175442600-175444400	Bivalent/Poised TSS	Fetal Lung	lung
25	chr4:175442600-175444400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr4:175442600-175444600	Active TSS	Fetal Intestine Small	intestine
27	chr4:175442600-175444800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:175442600-175444800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:175442600-175445200	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:175442600-175445400	Active TSS	Colon Smooth Muscle	Colon
31	chr4:175442600-175445400	Active TSS	Stomach Mucosa	stomach
32	chr4:175442600-175445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:175442800-175443000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:175442800-175443000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:175442800-175443000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr4:175442800-175443000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:175442800-175443000	Active TSS	Primary B cells from cord blood	blood
38	chr4:175442800-175443000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr4:175442800-175443000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr4:175442800-175443000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr4:175442800-175443000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:175442800-175443000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:175442800-175443000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr4:175442800-175443000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:175442800-175443000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:175442800-175443000	Active TSS	Brain Angular Gyrus	brain
47	chr4:175442800-175443000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr4:175442800-175443000	Active TSS	Brain Hippocampus Middle	brain
49	chr4:175442800-175443000	Active TSS	Esophagus	oesophagus
50	chr4:175442800-175443000	Active TSS	Fetal Brain Female	brain

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