Variant report

Variant	rs72975185
Chromosome Location	chr3:138633966-138633967
allele	A/C
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 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	chr3:138630662..138632226-chr3:138633404..138635164,2	K562	blood:
4	chr3:138416259..138418818-chr3:138633232..138635651,2	MCF-7	breast:
5	chr3:138504865..138507141-chr3:138632388..138635140,3	K562	blood:
6	chr3:138417903..138418658-chr3:138633900..138635456,13	MCF-7	breast:
7	chr3:138407189..138409579-chr3:138633061..138636215,3	MCF-7	breast:
8	chr3:138552393..138555107-chr3:138632980..138635921,5	MCF-7	breast:
9	chr3:138632940..138635986-chr3:138662755..138665505,3	K562	blood:
10	chr3:138628286..138631050-chr3:138632993..138634639,2	MCF-7	breast:
11	chr3:138308717..138311349-chr3:138631462..138634365,2	K562	blood:
12	chr3:138579482..138585214-chr3:138633331..138636801,5	K562	blood:
13	chr3:138546890..138548740-chr3:138633095..138635924,3	K562	blood:
14	chr3:138552668..138554003-chr3:138633779..138635597,7	K562	blood:
15	chr3:138549301..138556465-chr3:138628994..138637084,25	K562	blood:
16	chr3:138494200..138496855-chr3:138633256..138636170,2	K562	blood:
17	chr3:138633449..138636346-chr3:138637626..138640163,2	K562	blood:
18	chr3:138593342..138595996-chr3:138632596..138634736,2	K562	blood:
19	chr3:138551844..138556465-chr3:138627480..138638168,23	K562	blood:
20	chr3:138309156..138310798-chr3:138631884..138634871,2	MCF-7	breast:
21	chr11:62608622..62609195-chr3:138633907..138634436,2	Hela-S3	cervix:
22	chr3:138312593..138314567-chr3:138633570..138637203,5	MCF-7	breast:
23	chr3:138552399..138555934-chr3:138630715..138636171,8	MCF-7	breast:
24	chr3:138633432..138635539-chr3:138639300..138641799,2	MCF-7	breast:
25	chr3:138580973..138583451-chr3:138633177..138634854,2	MCF-7	breast:
26	chr3:138632940..138635852-chr3:138662958..138666566,3	K562	blood:

No data

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

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1021135	0.93[ASN][1000 genomes]
rs10935293	0.98[ASN][1000 genomes]
rs11706377	0.87[ASN][1000 genomes]
rs11919606	0.98[ASN][1000 genomes]
rs11919625	0.98[ASN][1000 genomes]
rs11923711	0.98[ASN][1000 genomes]
rs12487074	0.98[ASN][1000 genomes]
rs12695690	0.85[ASN][1000 genomes]
rs2062159	0.98[ASN][1000 genomes]
rs2062160	0.91[ASN][1000 genomes]
rs2348384	0.81[ASN][1000 genomes]
rs2348388	0.81[ASN][1000 genomes]
rs2348390	0.91[ASN][1000 genomes]
rs4894328	0.81[ASN][1000 genomes]
rs4894365	0.93[ASN][1000 genomes]
rs4894366	0.93[ASN][1000 genomes]
rs4894367	0.93[ASN][1000 genomes]
rs4894368	0.98[ASN][1000 genomes]
rs4894369	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4894370	1.00[ASN][1000 genomes]
rs59509299	0.93[ASN][1000 genomes]
rs59510253	0.83[ASN][1000 genomes]
rs59746662	0.85[ASN][1000 genomes]
rs60261131	0.90[ASN][1000 genomes]
rs67386737	0.87[ASN][1000 genomes]
rs6773967	0.81[ASN][1000 genomes]
rs6779898	0.98[ASN][1000 genomes]
rs6790195	0.81[ASN][1000 genomes]
rs72975149	0.90[ASN][1000 genomes]
rs72975151	0.93[ASN][1000 genomes]
rs72975160	0.93[ASN][1000 genomes]
rs72975167	0.93[ASN][1000 genomes]
rs72975188	1.00[ASN][1000 genomes]
rs72975190	1.00[ASN][1000 genomes]
rs72975192	1.00[ASN][1000 genomes]
rs73231625	0.81[ASN][1000 genomes]
rs7614489	0.81[ASN][1000 genomes]
rs7627822	1.00[ASN][1000 genomes]
rs7628753	0.93[ASN][1000 genomes]
rs7631910	0.98[ASN][1000 genomes]
rs7632846	0.98[ASN][1000 genomes]
rs7637710	1.00[ASN][1000 genomes]
rs9289569	0.81[ASN][1000 genomes]
rs9840090	0.98[ASN][1000 genomes]
rs9877198	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138631600-138634400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:138633600-138634000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:138633600-138634000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:138633600-138634000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr3:138633600-138634000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:138633600-138634000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:138633600-138634000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:138633600-138634000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:138633600-138634000	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr3:138633600-138634000	Enhancers	Fetal Thymus	thymus
11	chr3:138633600-138634000	Enhancers	Lung	lung
12	chr3:138633600-138634000	Enhancers	Psoas Muscle	Psoas
13	chr3:138633600-138634000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr3:138633600-138634000	Flanking Active TSS	Stomach Mucosa	stomach
15	chr3:138633600-138634000	Enhancers	Spleen	Spleen
16	chr3:138633600-138634000	Flanking Active TSS	A549	lung
17	chr3:138633600-138634200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr3:138633600-138634200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:138633600-138634200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:138633600-138634200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:138633600-138634200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:138633600-138634200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:138633600-138634200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr3:138633600-138634200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr3:138633600-138634200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr3:138633600-138634200	Flanking Active TSS	Hela-S3	cervix
27	chr3:138633600-138634200	Flanking Active TSS	K562	blood
28	chr3:138633600-138634200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:138633600-138634400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:138633600-138634400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:138633600-138635000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:138633600-138635000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:138633600-138635000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:138633600-138635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr3:138633600-138635200	Active TSS	Rectal Smooth Muscle	rectum
36	chr3:138633600-138635200	Flanking Active TSS	Dnd41	blood
37	chr3:138633600-138635400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:138633800-138634000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr3:138633800-138634000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:138633800-138634000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:138633800-138634000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:138633800-138634000	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:138633800-138634000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr3:138633800-138634000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:138633800-138634000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:138633800-138634000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:138633800-138634000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:138633800-138634000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:138633800-138634000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr3:138633800-138634000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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