Variant report

Variant	rs72975190
Chromosome Location	chr3:138635359-138635360
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138539568..138542251-chr3:138633369..138635951,2	K562	blood:
2	chr3:138418029..138419022-chr3:138633952..138635377,5	K562	blood:
3	chr3:138406603..138408896-chr3:138634975..138637498,2	K562	blood:
4	chr3:138416259..138418818-chr3:138633232..138635651,2	MCF-7	breast:
5	chr3:138313232..138314154-chr3:138634545..138635574,3	MCF-7	breast:
6	chr3:138411178..138413390-chr3:138634135..138635854,2	MCF-7	breast:
7	chr3:138417903..138418658-chr3:138633900..138635456,13	MCF-7	breast:
8	chr3:138407189..138409579-chr3:138633061..138636215,3	MCF-7	breast:
9	chr3:138552393..138555107-chr3:138632980..138635921,5	MCF-7	breast:
10	chr3:137787535..137788103-chr3:138634909..138635442,2	K562	blood:
11	chr3:138632940..138635986-chr3:138662755..138665505,3	K562	blood:
12	chr3:138417892..138418890-chr3:138634041..138635749,7	MCF-7	breast:
13	chr3:138415870..138419707-chr3:138634629..138636337,3	K562	blood:
14	chr3:138547576..138550266-chr3:138633999..138636358,2	MCF-7	breast:
15	chr3:138579482..138585214-chr3:138633331..138636801,5	K562	blood:
16	chr3:138546890..138548740-chr3:138633095..138635924,3	K562	blood:
17	chr3:138634130..138636640-chr3:138636697..138638996,2	MCF-7	breast:
18	chr3:138552668..138554003-chr3:138633779..138635597,7	K562	blood:
19	chr3:138582033..138584014-chr3:138634089..138636895,3	K562	blood:
20	chr3:138549301..138556465-chr3:138628994..138637084,25	K562	blood:
21	chr3:138494200..138496855-chr3:138633256..138636170,2	K562	blood:
22	chr3:138553014..138554580-chr3:138633993..138635501,11	MCF-7	breast:
23	chr3:138633449..138636346-chr3:138637626..138640163,2	K562	blood:
24	chr3:138415870..138418377-chr3:138634629..138636337,2	K562	blood:
25	chr3:138551844..138556465-chr3:138627480..138638168,23	K562	blood:
26	chr3:138312593..138314567-chr3:138633570..138637203,5	MCF-7	breast:
27	chr3:138552399..138555934-chr3:138630715..138636171,8	MCF-7	breast:
28	chr3:138633432..138635539-chr3:138639300..138641799,2	MCF-7	breast:
29	chr3:138632940..138635852-chr3:138662958..138666566,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206262	Chromatin interaction
ENSG00000051382	Chromatin interaction
ENSG00000183770	Chromatin interaction
ENSG00000244578	Chromatin interaction
ENSG00000114107	Chromatin interaction
ENSG00000239207	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1021135	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10935293	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706377	0.87[ASN][1000 genomes]
rs11718698	0.80[AMR][1000 genomes]
rs11919606	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11919625	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11923711	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12487074	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12695690	0.85[ASN][1000 genomes]
rs2062159	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062160	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2348384	0.81[ASN][1000 genomes]
rs2348388	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2348390	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4894328	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4894365	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894366	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894367	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894368	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4894369	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894370	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59509299	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59510253	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59746662	0.85[ASN][1000 genomes]
rs60261131	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67386737	0.87[ASN][1000 genomes]
rs6773967	0.81[ASN][1000 genomes]
rs6779898	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6790195	0.81[ASN][1000 genomes]
rs72975145	0.82[EUR][1000 genomes]
rs72975149	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72975151	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975160	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975167	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975185	1.00[ASN][1000 genomes]
rs72975188	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975192	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231625	0.81[ASN][1000 genomes]
rs7614489	0.81[ASN][1000 genomes]
rs7627822	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628753	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631910	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7632846	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7637710	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289569	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9840090	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9877198	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9877882	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138633600-138635400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:138634000-138635400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:138634000-138635400	Active TSS	Brain Germinal Matrix	brain
4	chr3:138634000-138635600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:138634200-138635400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:138634200-138635400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:138634200-138635400	Active TSS	NHDF-Ad	bronchial
8	chr3:138634400-138635400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:138634800-138635400	Weak transcription	Fetal Heart	heart
10	chr3:138635000-138635400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:138635000-138635400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr3:138635000-138635400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:138635000-138635400	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr3:138635000-138635400	Flanking Active TSS	HMEC	breast
15	chr3:138635000-138635600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:138635000-138635600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:138635000-138635600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:138635000-138635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:138635000-138635600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr3:138635000-138635600	Flanking Active TSS	NHEK	skin
21	chr3:138635000-138636000	Enhancers	Stomach Mucosa	stomach
22	chr3:138635000-138636000	Enhancers	HUVEC	blood vessel
23	chr3:138635200-138635400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:138635200-138635400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr3:138635200-138635400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:138635200-138635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:138635200-138635400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:138635200-138635400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:138635200-138635400	Enhancers	Colonic Mucosa	Colon
30	chr3:138635200-138635400	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:138635200-138635400	Enhancers	Fetal Muscle Trunk	muscle
32	chr3:138635200-138635400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:138635200-138635400	Flanking Active TSS	Fetal Stomach	stomach
34	chr3:138635200-138635400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr3:138635200-138635400	Active TSS	Hela-S3	cervix
36	chr3:138635200-138635400	Bivalent/Poised TSS	HepG2	liver
37	chr3:138635200-138635600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:138635200-138635600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:138635200-138635600	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:138635200-138635600	Enhancers	Adipose Nuclei	Adipose
41	chr3:138635200-138635600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:138635200-138635600	Enhancers	Rectal Smooth Muscle	rectum
43	chr3:138635200-138635600	Enhancers	Dnd41	blood
44	chr3:138635200-138635600	Enhancers	NHLF	lung
45	chr3:138635200-138635800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr3:138635200-138635800	Enhancers	Stomach Smooth Muscle	stomach
47	chr3:138635200-138635800	Flanking Active TSS	K562	blood
48	chr3:138635200-138636000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:138635200-138636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:138635200-138636000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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