Variant report

Variant	rs72671702
Chromosome Location	chr1:67402832-67402833
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	chr1:67396141..67398449-chr1:67400881..67403704,2	MCF-7	breast:
2	chr1:65634867..65636428-chr1:67400742..67403571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11799699	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802888	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11803444	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11806284	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810931	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810986	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129539	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129572	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1983860	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985796	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008872	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008887	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008889	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008891	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008893	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286730	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585878	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58283724	0.95[AMR][1000 genomes]
rs61587608	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66478764	1.00[ASN][1000 genomes]
rs66594421	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66643151	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66773274	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66979028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67219200	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67262874	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67563312	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67835314	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72673722	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673772	0.95[AMR][1000 genomes]
rs72926093	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927953	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7528485	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:67396800-67403000	Weak transcription	Gastric	stomach
4	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:67396800-67414400	Weak transcription	Lung	lung
6	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
7	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
9	chr1:67397000-67408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
13	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
14	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
15	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
16	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
17	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
18	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:67397800-67404200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
23	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:67398600-67406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:67399200-67406400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:67399600-67407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:67399800-67403200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:67399800-67409200	Weak transcription	Fetal Heart	heart
31	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:67400000-67403600	Weak transcription	NH-A	brain
33	chr1:67400000-67403600	Weak transcription	NHDF-Ad	bronchial
34	chr1:67400000-67405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:67400000-67408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:67400200-67403600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:67400200-67406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:67400200-67410200	Weak transcription	HSMMtube	muscle
40	chr1:67400400-67403000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:67400400-67403600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:67400400-67404000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:67400400-67404000	Weak transcription	HSMM	muscle
44	chr1:67400400-67404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:67400400-67406400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:67400400-67409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:67400400-67410600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:67400400-67413200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:67400400-67413200	Weak transcription	Fetal Lung	lung
50	chr1:67400600-67403000	Weak transcription	Left Ventricle	heart

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