Variant report

Variant	rs72967181
Chromosome Location	chr3:119630904-119630905
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119630695..119633017-chr3:119635093..119636918,2	K562	blood:
2	chr3:119630860..119633808-chr3:119813838..119816291,2	MCF-7	breast:
3	chr3:119629683..119632180-chr3:119812934..119815456,2	K562	blood:
4	chr3:119629935..119635391-chr3:119636173..119640969,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs57461967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57512425	1.00[AMR][1000 genomes]
rs58321096	1.00[AMR][1000 genomes]
rs58340674	1.00[AMR][1000 genomes]
rs58533045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742584	1.00[AMR][1000 genomes]
rs72967103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967130	0.92[AFR][1000 genomes]
rs72967133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967191	1.00[AMR][1000 genomes]
rs72967195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969103	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969116	1.00[AMR][1000 genomes]
rs72969128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969135	1.00[AMR][1000 genomes]
rs72969142	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969149	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969170	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971006	1.00[AMR][1000 genomes]
rs72971013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971017	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971026	0.84[AFR][1000 genomes]
rs72971050	1.00[AMR][1000 genomes]
rs72971051	1.00[AMR][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:119597600-119659000	Weak transcription	Gastric	stomach
4	chr3:119608000-119643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:119608200-119639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:119611200-119643400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
9	chr3:119611400-119631000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:119611400-119632200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:119611400-119632200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:119611400-119634600	Weak transcription	Spleen	Spleen
13	chr3:119611400-119642000	Weak transcription	Fetal Brain Male	brain
14	chr3:119611400-119649400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
16	chr3:119613000-119637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:119614200-119645200	Weak transcription	K562	blood
18	chr3:119617400-119631000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:119618400-119631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:119618400-119639800	Weak transcription	NHLF	lung
21	chr3:119620600-119635800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:119621200-119631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:119621200-119631400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:119621200-119639600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:119621400-119632400	Strong transcription	Primary B cells from cord blood	blood
26	chr3:119621600-119632400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:119621800-119631000	Strong transcription	Dnd41	blood
28	chr3:119621800-119639000	Weak transcription	Fetal Intestine Small	intestine
29	chr3:119622000-119633600	Weak transcription	Colonic Mucosa	Colon
30	chr3:119622200-119640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:119623400-119631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:119624600-119634400	Weak transcription	HepG2	liver
33	chr3:119624600-119642200	Weak transcription	Brain Germinal Matrix	brain
34	chr3:119624800-119635400	Weak transcription	A549	lung
35	chr3:119625000-119631200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
37	chr3:119625800-119635600	Weak transcription	Osteobl	bone
38	chr3:119626200-119633800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:119627200-119631000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:119627200-119631200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:119627200-119634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:119627400-119631800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:119627600-119635000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:119627800-119631600	Weak transcription	Brain Angular Gyrus	brain
45	chr3:119627800-119632800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:119627800-119635200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:119627800-119640400	Weak transcription	Brain Substantia Nigra	brain
48	chr3:119628000-119631000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:119628000-119636400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:119628200-119631800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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