Variant report

Variant	rs4651211
Chromosome Location	chr1:184464164-184464165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184463001..184465421-chr1:184468244..184470374,3	K562	blood:
2	chr1:184456316..184459297-chr1:184462033..184464590,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007224	0.91[EUR][1000 genomes]
rs10737253	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10797971	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10797972	0.87[ASN][1000 genomes]
rs10797974	0.82[EUR][1000 genomes]
rs10797977	0.93[EUR][1000 genomes]
rs10911606	0.88[EUR][1000 genomes]
rs11588922	0.85[ASN][1000 genomes]
rs12125349	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12127674	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339563	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1339564	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1339565	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339566	0.88[EUR][1000 genomes]
rs1339567	0.92[EUR][1000 genomes]
rs1416752	0.81[EUR][1000 genomes]
rs1569842	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1884200	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001270	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2038307	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2038308	0.93[EUR][1000 genomes]
rs2144294	0.88[EUR][1000 genomes]
rs2180073	0.84[EUR][1000 genomes]
rs2180077	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2207528	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2378888	0.85[ASN][1000 genomes]
rs2890015	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4650667	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4651208	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4651210	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651213	0.85[EUR][1000 genomes]
rs4651216	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4651217	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4651219	0.93[EUR][1000 genomes]
rs55729410	0.96[ASN][1000 genomes]
rs6661707	0.94[ASN][1000 genomes]
rs6666704	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7517518	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533466	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7544240	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9970984	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9970990	0.94[EUR][1000 genomes];0.85[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
2	chr1:184455800-184466200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:184456400-184465200	Weak transcription	Fetal Brain Female	brain
4	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:184456600-184472800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:184457200-184466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:184457400-184468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:184459000-184467000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:184459600-184465200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:184459600-184466200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:184460000-184465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:184460800-184464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:184461000-184482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:184461400-184468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:184461600-184464200	Enhancers	Fetal Heart	heart
17	chr1:184461600-184464400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:184461600-184464400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:184461600-184464600	Enhancers	HepG2	liver
20	chr1:184461600-184465200	Weak transcription	Fetal Thymus	thymus
21	chr1:184461600-184466400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:184461600-184470600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:184461600-184472600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:184461600-184475400	Weak transcription	NHEK	skin
25	chr1:184461600-184476800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:184461600-184479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:184461800-184467400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:184462000-184464200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:184462000-184465600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:184462000-184467400	Weak transcription	Osteobl	bone
32	chr1:184462000-184472600	Weak transcription	Fetal Stomach	stomach
33	chr1:184462000-184473200	Weak transcription	NHLF	lung
34	chr1:184462600-184467200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:184462800-184464400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:184462800-184464400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:184462800-184468200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:184463000-184464600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:184463000-184469600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:184463200-184464200	Enhancers	Small Intestine	intestine
41	chr1:184463200-184464400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:184463200-184464400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:184463200-184464400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:184463200-184464400	Enhancers	Left Ventricle	heart
45	chr1:184463200-184464400	Enhancers	Right Atrium	heart
46	chr1:184463200-184464400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:184463200-184464600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:184463200-184464600	Enhancers	Stomach Mucosa	stomach
49	chr1:184463200-184470600	Enhancers	Psoas Muscle	Psoas
50	chr1:184463400-184464200	Enhancers	Colonic Mucosa	Colon

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