Variant report

Variant	rs728079
Chromosome Location	chr5:5432093-5432094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5428860..5432733-chr5:5433085..5436947,4	MCF-7	breast:
2	chr5:5431864..5432633-chr7:126274991..126275821,2	MCF-7	breast:
3	chr5:5426787..5429141-chr5:5430584..5433274,3	K562	blood:
4	chr5:5430679..5433262-chr5:5446134..5448156,2	K562	blood:
5	chr5:5422448..5424386-chr5:5430615..5434524,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10462631	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1473230	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875568	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16875578	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16875584	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16875589	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16875590	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16875597	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875617	0.86[EUR][1000 genomes]
rs16875618	0.86[EUR][1000 genomes]
rs16875619	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306349	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35190184	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806873	0.86[EUR][1000 genomes]
rs3806874	0.86[EUR][1000 genomes]
rs4283757	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4701700	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4702268	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702269	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702270	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4702271	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6874736	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72646678	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73736664	0.86[EUR][1000 genomes]
rs7713294	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7713609	0.98[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7714569	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:5424400-5436800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:5424400-5437200	Weak transcription	Fetal Thymus	thymus
5	chr5:5424400-5437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:5424400-5437600	Weak transcription	Placenta	Placenta
7	chr5:5424800-5432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:5424800-5436600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:5424800-5437600	Weak transcription	Fetal Kidney	kidney
10	chr5:5425000-5432200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:5425000-5432200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:5425000-5436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:5425000-5436600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:5425000-5437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:5425000-5437200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:5425000-5437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:5425000-5437800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:5425000-5443600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:5425200-5432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:5425200-5432200	Weak transcription	NHDF-Ad	bronchial
21	chr5:5425200-5432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:5425200-5433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:5425200-5434800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:5425200-5436800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:5425200-5439000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:5425200-5443200	Weak transcription	Fetal Brain Male	brain
27	chr5:5425200-5443600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:5425200-5443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:5425200-5443600	Weak transcription	Pancreas	Pancrea
30	chr5:5425200-5443800	Weak transcription	Esophagus	oesophagus
31	chr5:5425400-5434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:5425400-5436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:5425400-5441400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:5425400-5443600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:5425400-5443800	Weak transcription	Colonic Mucosa	Colon
36	chr5:5425600-5432400	Weak transcription	HSMM	muscle
37	chr5:5425600-5437200	Weak transcription	Fetal Lung	lung
38	chr5:5425600-5440800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:5425600-5443400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:5425600-5443400	Weak transcription	Brain Germinal Matrix	brain
41	chr5:5425600-5443600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:5425600-5443600	Weak transcription	Thymus	Thymus
43	chr5:5425800-5443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:5426000-5432400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:5426000-5443200	Weak transcription	Brain Anterior Caudate	brain
46	chr5:5426200-5432200	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:5426200-5432400	Weak transcription	K562	blood
48	chr5:5426200-5436600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:5426200-5437200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:5427400-5436600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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