Variant report

Variant	rs72936670
Chromosome Location	chr3:98604029-98604030
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98602528..98604913-chr3:98611525..98613667,2	K562	blood:
2	chr3:98603129..98605269-chr3:98618566..98620834,2	MCF-7	breast:
3	chr3:98603937..98606892-chr3:98607336..98610177,2	MCF-7	breast:
4	chr3:98595385..98598220-chr3:98601282..98604965,3	K562	blood:
5	chr3:98597641..98599720-chr3:98602345..98604464,2	K562	blood:

Variant related genes	Relation type
ENSG00000057019	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13085453	0.91[AFR][1000 genomes]
rs58977425	0.91[AFR][1000 genomes]
rs59581962	0.91[AFR][1000 genomes]
rs72936622	1.00[AFR][1000 genomes]
rs72936644	1.00[AFR][1000 genomes]
rs72936652	1.00[AFR][1000 genomes]
rs72936657	1.00[AFR][1000 genomes]
rs72936667	1.00[AFR][1000 genomes]
rs72936668	1.00[AFR][1000 genomes]
rs72936673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936691	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936692	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936694	1.00[AMR][1000 genomes]
rs72936700	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938525	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938539	0.91[AFR][1000 genomes]
rs72938557	0.91[AFR][1000 genomes]
rs72938573	0.91[AFR][1000 genomes]
rs72938584	0.91[AFR][1000 genomes]
rs72938585	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3441569	chr3:98585311-98607020	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:98587200-98604600	Weak transcription	Ovary	ovary
5	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
6	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:98590800-98604600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:98591400-98604200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:98591600-98604600	Weak transcription	Aorta	Aorta
10	chr3:98592600-98604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:98593800-98604600	Weak transcription	Psoas Muscle	Psoas
12	chr3:98593800-98619400	Weak transcription	Small Intestine	intestine
13	chr3:98594400-98616600	Weak transcription	Fetal Brain Male	brain
14	chr3:98594600-98604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:98595200-98608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:98596200-98606600	Weak transcription	HepG2	liver
17	chr3:98596800-98604200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:98597000-98609000	Weak transcription	Right Ventricle	heart
19	chr3:98597400-98619000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:98597800-98604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:98598200-98608400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:98598400-98604200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:98599200-98609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:98599800-98609000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:98599800-98618400	Weak transcription	Fetal Brain Female	brain
26	chr3:98600000-98604200	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:98600000-98609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:98600200-98604200	Weak transcription	Left Ventricle	heart
29	chr3:98600400-98604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:98600600-98604200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:98600600-98604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:98600600-98604800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:98600600-98604800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:98600600-98607200	Weak transcription	Brain Angular Gyrus	brain
35	chr3:98600600-98611200	Weak transcription	Liver	Liver
36	chr3:98600600-98613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:98600600-98618000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:98600600-98618000	Weak transcription	Fetal Thymus	thymus
39	chr3:98601800-98604200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:98602200-98605000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:98602200-98608600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:98602200-98613600	Genic enhancers	HSMM	muscle
43	chr3:98602400-98604200	Transcr. at gene 5' and 3'	A549	lung
44	chr3:98602400-98613600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:98602600-98604400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:98602600-98604600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:98602600-98605400	Enhancers	Rectal Smooth Muscle	rectum
48	chr3:98602800-98605400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:98603000-98604800	Transcr. at gene 5' and 3'	NH-A	brain
50	chr3:98603000-98605600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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