Variant report

Variant	rs623753
Chromosome Location	chr3:101533712-101533713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101532469..101535630-chr3:101577445..101579384,3	MCF-7	breast:
2	chr3:101527585..101537705-chr3:101566838..101571797,17	MCF-7	breast:
3	chr3:101530529..101534749-chr3:101945059..101947707,3	MCF-7	breast:
4	chr3:101533546..101534144-chr3:101568423..101569036,2	MCF-7	breast:
5	chr3:101529875..101542964-chr3:101564408..101571425,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13090844	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2625289	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs605621	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665631	1.00[ASN][1000 genomes]
rs682610	1.00[ASN][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101498800-101533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:101498800-101546200	Weak transcription	Esophagus	oesophagus
3	chr3:101502600-101540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101502600-101540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:101504800-101546000	Weak transcription	Colonic Mucosa	Colon
6	chr3:101511000-101536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:101515200-101540200	Weak transcription	NHLF	lung
8	chr3:101515400-101535800	Weak transcription	NHEK	skin
9	chr3:101515400-101546000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:101516000-101546000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:101520400-101546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:101520800-101535800	Weak transcription	Aorta	Aorta
13	chr3:101520800-101535800	Weak transcription	Spleen	Spleen
14	chr3:101520800-101536200	Weak transcription	Right Ventricle	heart
15	chr3:101520800-101539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:101520800-101540200	Weak transcription	Lung	lung
17	chr3:101520800-101546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:101521000-101535800	Weak transcription	Thymus	Thymus
19	chr3:101521200-101533800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:101521200-101535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:101521200-101546200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:101521400-101535800	Weak transcription	Brain Germinal Matrix	brain
23	chr3:101521400-101535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:101521400-101536000	Weak transcription	Fetal Brain Female	brain
25	chr3:101522000-101535800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:101522200-101535400	Weak transcription	HSMMtube	muscle
27	chr3:101522200-101540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:101522800-101535800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:101522800-101535800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:101522800-101535800	Weak transcription	Ovary	ovary
31	chr3:101522800-101536200	Weak transcription	Fetal Stomach	stomach
32	chr3:101522800-101540200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:101523000-101535800	Weak transcription	Fetal Brain Male	brain
34	chr3:101523200-101536200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:101523400-101540400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:101523600-101535600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:101523800-101540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:101525800-101540200	Weak transcription	Osteobl	bone
39	chr3:101526400-101535800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:101526600-101535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:101526800-101535800	Weak transcription	Left Ventricle	heart
42	chr3:101527400-101535600	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:101528600-101535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:101528600-101540000	Weak transcription	Fetal Lung	lung
45	chr3:101528600-101546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:101528800-101535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:101528800-101535800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:101528800-101535800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:101529000-101535800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:101529000-101535800	Weak transcription	Adipose Nuclei	Adipose

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