Variant report

Variant	rs2137339
Chromosome Location	chr8:103919939-103919940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103905020..103906707-chr8:103917202..103920098,2	MCF-7	breast:
2	chr8:103895310..103896891-chr8:103919251..103921969,2	MCF-7	breast:
3	chr8:103914488..103917104-chr8:103917551..103922052,4	K562	blood:
4	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
5	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12544232	0.86[AMR][1000 genomes]
rs12546479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546636	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550185	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197341	0.89[AMR][1000 genomes]
rs17197736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198079	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775390	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734676	0.86[AMR][1000 genomes]
rs4734678	0.86[AMR][1000 genomes]
rs56854051	0.84[AMR][1000 genomes]
rs62522573	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62522576	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526533	0.83[AMR][1000 genomes]
rs62526534	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
4	chr8:103907800-103922600	Weak transcription	Gastric	stomach
5	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
7	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:103911600-103921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:103911800-103921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
14	chr8:103911800-103922600	Weak transcription	Lung	lung
15	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:103913400-103922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
18	chr8:103913600-103922600	Weak transcription	Spleen	Spleen
19	chr8:103914400-103920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:103915000-103920000	Enhancers	Placenta	Placenta
21	chr8:103915600-103921400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:103915800-103922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:103915800-103922000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:103915800-103922400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:103915800-103922600	Weak transcription	Right Atrium	heart
26	chr8:103916000-103921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:103916000-103922000	Weak transcription	Fetal Lung	lung
28	chr8:103916000-103922000	Weak transcription	Ovary	ovary
29	chr8:103916000-103922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:103916200-103922000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:103916400-103922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:103917400-103920200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:103917400-103922200	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:103917400-103922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:103917400-103925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:103917600-103921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:103917600-103922200	Weak transcription	Fetal Stomach	stomach
38	chr8:103918200-103920600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:103918800-103921800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:103918800-103922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:103918800-103922600	Weak transcription	Pancreas	Pancrea
42	chr8:103919000-103921200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:103919000-103921200	Weak transcription	NH-A	brain
44	chr8:103919000-103921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:103919000-103921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:103919000-103921800	Weak transcription	HSMMtube	muscle
47	chr8:103919000-103922000	Weak transcription	HepG2	liver
48	chr8:103919000-103922400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:103919000-103922600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr8:103919200-103920200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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