Variant report

Variant	rs72865926
Chromosome Location	chr1:10313703-10313704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10312327..10314244-chr1:10342279..10344001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492970	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034591	1.00[ASN][1000 genomes]
rs17034601	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034616	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034627	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034655	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034660	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034716	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034766	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2297881	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	0.88[AMR][1000 genomes]
rs3819096	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41274480	0.88[AMR][1000 genomes]
rs4329521	1.00[ASN][1000 genomes]
rs57661717	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57963032	0.88[AMR][1000 genomes]
rs61508659	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72864193	0.88[ASN][1000 genomes]
rs72864196	0.88[ASN][1000 genomes]
rs72865913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865916	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865925	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865927	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865941	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72865999	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72867438	0.88[AMR][1000 genomes]
rs72867441	0.88[AMR][1000 genomes]
rs72867455	0.88[AMR][1000 genomes]
rs72867467	0.88[AMR][1000 genomes]
rs72867469	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
3	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:10289200-10317400	Weak transcription	Liver	Liver
5	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
7	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:10295800-10322000	Weak transcription	Lung	lung
9	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:10297400-10316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10302000-10321800	Weak transcription	Esophagus	oesophagus
14	chr1:10302200-10313800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:10302400-10315600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:10303200-10316000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:10305200-10317200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:10306200-10316000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:10307600-10340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:10307800-10316200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:10308400-10316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:10308600-10314200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:10308800-10314400	Enhancers	Brain Substantia Nigra	brain
24	chr1:10309600-10315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:10309800-10313800	Enhancers	Psoas Muscle	Psoas
26	chr1:10310600-10313800	Enhancers	Fetal Muscle Leg	muscle
27	chr1:10310800-10313800	Enhancers	Brain Anterior Caudate	brain
28	chr1:10310800-10315400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:10310800-10315800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:10311000-10314200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:10311000-10322000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:10311000-10327600	Weak transcription	Aorta	Aorta
33	chr1:10311200-10314600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:10311400-10314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:10311400-10314600	Enhancers	NH-A	brain
36	chr1:10311400-10321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:10311400-10322000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:10311600-10314400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:10311600-10331200	Weak transcription	Fetal Thymus	thymus
40	chr1:10311800-10313800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:10311800-10314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:10311800-10314000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:10311800-10314600	Enhancers	NHDF-Ad	bronchial
44	chr1:10311800-10315400	Enhancers	HSMM	muscle
45	chr1:10311800-10317000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:10311800-10317400	Weak transcription	HUVEC	blood vessel
47	chr1:10312000-10314200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:10312000-10314600	Enhancers	Osteobl	bone
49	chr1:10312200-10313800	Enhancers	Left Ventricle	heart
50	chr1:10312400-10313800	Enhancers	Pancreas	Pancrea

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