Variant report

Variant	rs7529914
Chromosome Location	chr1:211806496-211806497
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211802788..211806999-chr1:211814684..211819078,4	K562	blood:
2	chr1:211804616..211806935-chr1:211847772..211850584,2	K562	blood:
3	chr1:211751483..211753774-chr1:211805908..211807801,3	MCF-7	breast:
4	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
5	chr1:211794683..211796296-chr1:211806280..211809015,2	MCF-7	breast:
6	chr1:211805954..211807830-chr1:211810555..211812059,2	K562	blood:
7	chr1:211751888..211754442-chr1:211802354..211807016,4	K562	blood:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000117650	Chromatin interaction

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

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

rs_ID	r²[population]
rs10157989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580557	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590554	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239534	0.95[ASN][1000 genomes]
rs12711504	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711507	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749444	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751564	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756506	0.90[AFR][1000 genomes]
rs12756676	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017855	1.00[ASN][1000 genomes]
rs34028707	0.95[ASN][1000 genomes]
rs4345851	0.81[ASN][1000 genomes]
rs4399227	0.81[ASN][1000 genomes]
rs4562684	0.81[ASN][1000 genomes]
rs4951414	0.85[ASN][1000 genomes]
rs4951417	0.90[ASN][1000 genomes]
rs4951420	0.86[ASN][1000 genomes]
rs6540692	0.81[ASN][1000 genomes]
rs765202	0.81[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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211800000-211807200	Enhancers	Fetal Heart	heart
2	chr1:211803400-211807000	Enhancers	Ovary	ovary
3	chr1:211803400-211807600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:211803400-211807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:211803600-211807200	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:211803600-211807200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:211803800-211807600	Enhancers	Fetal Thymus	thymus
8	chr1:211804000-211806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:211804200-211807200	Enhancers	Right Atrium	heart
10	chr1:211804200-211807200	Enhancers	Right Ventricle	heart
11	chr1:211804200-211807600	Enhancers	Left Ventricle	heart
12	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:211804400-211807400	Enhancers	Spleen	Spleen
15	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
16	chr1:211805000-211807000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211805200-211806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:211805400-211806800	Enhancers	GM12878-XiMat	blood
19	chr1:211805400-211807000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:211805400-211807000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:211805400-211807000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:211805400-211807400	Enhancers	Osteobl	bone
23	chr1:211805400-211808200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:211805400-211808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:211805600-211806600	Enhancers	Brain Anterior Caudate	brain
26	chr1:211805600-211807000	Enhancers	Esophagus	oesophagus
27	chr1:211805600-211807000	Enhancers	Fetal Lung	lung
28	chr1:211805600-211807200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:211805600-211807200	Enhancers	HSMM	muscle
30	chr1:211805600-211807400	Enhancers	NH-A	brain
31	chr1:211805600-211807800	Enhancers	HMEC	breast
32	chr1:211805800-211806800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr1:211805800-211807000	Enhancers	Placenta	Placenta
34	chr1:211805800-211807000	Enhancers	Lung	lung
35	chr1:211805800-211807000	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:211805800-211807200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:211805800-211807200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:211805800-211807200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:211805800-211807200	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:211805800-211807200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:211805800-211807200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:211805800-211807200	Enhancers	NHEK	skin
43	chr1:211805800-211807400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:211805800-211807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:211805800-211807600	Enhancers	Pancreas	Pancrea
46	chr1:211805800-211807600	Enhancers	HSMMtube	muscle
47	chr1:211805800-211808200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:211806000-211807000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:211806000-211807000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:211806000-211807000	Enhancers	Adipose Nuclei	Adipose

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