Variant report

Variant	rs73123678
Chromosome Location	chr5:79404405-79404406
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:
2	chr5:79400700..79403257-chr5:79403572..79405764,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11741152	0.93[ASN][1000 genomes]
rs16877496	0.93[ASN][1000 genomes]
rs16877502	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61127997	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62363993	0.85[ASN][1000 genomes]
rs6863009	0.80[ASN][1000 genomes]
rs73123675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123682	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123686	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123694	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	chr5:79388000-79405000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:79390600-79405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:79393800-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:79396000-79406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:79398600-79405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:79399400-79411000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:79401200-79405600	Weak transcription	Right Ventricle	heart
11	chr5:79401400-79405600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:79402000-79405600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:79402200-79405000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:79402200-79405400	Weak transcription	Ovary	ovary
15	chr5:79402200-79405600	Weak transcription	Placenta	Placenta
16	chr5:79402400-79405400	Weak transcription	Fetal Intestine Large	intestine
17	chr5:79402400-79405400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:79402400-79405600	Weak transcription	Right Atrium	heart
19	chr5:79402400-79410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:79402400-79412200	Weak transcription	Left Ventricle	heart
21	chr5:79402600-79405400	Weak transcription	Fetal Stomach	stomach
22	chr5:79402600-79406200	Weak transcription	Pancreas	Pancrea
23	chr5:79403000-79405600	Weak transcription	Thymus	Thymus
24	chr5:79403000-79405600	Weak transcription	HepG2	liver
25	chr5:79403000-79413000	Weak transcription	Dnd41	blood
26	chr5:79403800-79405000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:79403800-79408000	Enhancers	Fetal Brain Male	brain
28	chr5:79404000-79404800	Weak transcription	Fetal Thymus	thymus
29	chr5:79404000-79405600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:79404000-79405600	Enhancers	Brain Germinal Matrix	brain
31	chr5:79404000-79409800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:79404000-79411000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:79404400-79404600	Enhancers	Fetal Brain Female	brain
34	chr5:79404400-79405200	Enhancers	Colon Smooth Muscle	Colon
35	chr5:79404400-79405800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:79404400-79407800	Enhancers	Fetal Heart	heart

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