Variant report

Variant	rs73123694
Chromosome Location	chr5:79409089-79409090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79402314..79404857-chr5:79408455..79410361,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11741152	0.87[ASN][1000 genomes]
rs16877496	0.86[ASN][1000 genomes]
rs16877502	0.93[ASN][1000 genomes]
rs16877503	0.93[ASN][1000 genomes]
rs61127997	0.93[ASN][1000 genomes]
rs73123675	0.93[ASN][1000 genomes]
rs73123676	0.93[ASN][1000 genomes]
rs73123678	0.93[ASN][1000 genomes]
rs73123679	0.93[ASN][1000 genomes]
rs73123682	0.93[ASN][1000 genomes]
rs73123686	0.93[ASN][1000 genomes]
rs73123687	0.93[ASN][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:79399400-79411000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:79402400-79410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:79402400-79412200	Weak transcription	Left Ventricle	heart
7	chr5:79403000-79413000	Weak transcription	Dnd41	blood
8	chr5:79404000-79409800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:79404000-79411000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:79404800-79412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:79406000-79409600	Weak transcription	Thymus	Thymus
12	chr5:79406200-79411600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
14	chr5:79406600-79411800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:79406600-79412200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:79406600-79413000	Weak transcription	Ovary	ovary
17	chr5:79406800-79415200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:79407000-79411000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:79407400-79409600	Weak transcription	Gastric	stomach
20	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:79407600-79409200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:79407600-79410800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:79407600-79412200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:79407800-79409600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:79407800-79410600	Weak transcription	Fetal Heart	heart
26	chr5:79408000-79410600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:79408000-79410800	Weak transcription	Fetal Lung	lung
28	chr5:79408000-79411600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:79408000-79412400	Weak transcription	Pancreas	Pancrea
30	chr5:79408200-79409600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:79408200-79409600	Weak transcription	Fetal Intestine Small	intestine
32	chr5:79408200-79409600	Weak transcription	Fetal Thymus	thymus
33	chr5:79408800-79411000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:79409000-79409400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:79409000-79409400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:79409000-79413000	Strong transcription	Primary T cells from cord blood	blood

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