Variant report

Variant	rs526221
Chromosome Location	chr1:225780168-225780169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225772554..225774967-chr1:225778509..225781013,2	MCF-7	breast:
2	chr1:225779097..225781482-chr1:225782151..225783761,2	MCF-7	breast:
3	chr1:225777393..225780281-chr1:225780667..225783094,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10082003	0.80[AMR][1000 genomes]
rs1222434	0.90[AFR][1000 genomes]
rs1336480	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1360958	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1764345	0.81[EUR][1000 genomes]
rs1764347	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1771318	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2035916	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3904084	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs475794	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481746	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499385	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs516323	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs525062	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544404	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544430	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566085	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59363938	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7545317	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs954534	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9651009	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225766400-225783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:225768400-225781200	Weak transcription	Right Ventricle	heart
7	chr1:225768600-225787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:225768800-225781000	Weak transcription	HSMM	muscle
9	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
10	chr1:225769000-225783000	Weak transcription	HSMMtube	muscle
11	chr1:225769200-225783200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:225770000-225782000	Weak transcription	Right Atrium	heart
13	chr1:225770000-225783200	Weak transcription	Psoas Muscle	Psoas
14	chr1:225770000-225785200	Weak transcription	Left Ventricle	heart
15	chr1:225770000-225787600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:225770800-225781800	Weak transcription	Osteobl	bone
17	chr1:225771000-225784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:225774000-225780600	Weak transcription	Fetal Stomach	stomach
19	chr1:225774000-225781000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:225774800-225793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:225775600-225781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:225776200-225781400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:225776800-225781000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:225777000-225781000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:225777000-225781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:225777000-225793400	Weak transcription	Pancreas	Pancrea
28	chr1:225777400-225781200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:225777800-225780800	Enhancers	Fetal Heart	heart
30	chr1:225777800-225783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:225778200-225780800	Weak transcription	Fetal Brain Male	brain
32	chr1:225778400-225784000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:225778400-225784400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:225778600-225781200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:225778600-225783600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:225778600-225785400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:225778600-225787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:225778600-225794200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:225779400-225781200	Enhancers	A549	lung
40	chr1:225779400-225785400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:225779600-225780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:225779600-225780400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:225779600-225780800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:225779600-225782200	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:225779600-225782600	Enhancers	Colon Smooth Muscle	Colon
46	chr1:225779600-225782600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:225779600-225783400	Strong transcription	NH-A	brain
48	chr1:225779800-225780200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:225779800-225780200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:225779800-225780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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