Variant report

Variant	rs56159213
Chromosome Location	chr1:225785225-225785226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225778350..225780022-chr1:225784894..225787023,2	K562	blood:
2	chr1:225784703..225788501-chr1:225791324..225793418,3	K562	blood:
3	chr1:225782318..225785291-chr1:225791224..225794186,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55752939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56396885	1.00[AMR][1000 genomes]
rs74147610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147622	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147624	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147626	1.00[AMR][1000 genomes]
rs74147628	1.00[AMR][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	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:225768600-225787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
6	chr1:225770000-225787600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:225774800-225793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:225777000-225793400	Weak transcription	Pancreas	Pancrea
10	chr1:225778600-225785400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:225778600-225787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:225778600-225794200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:225779400-225785400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:225780200-225790400	Weak transcription	NHLF	lung
15	chr1:225780200-225794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:225780400-225786200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:225781000-225791400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
20	chr1:225781200-225785600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:225781200-225793200	Weak transcription	Ovary	ovary
22	chr1:225782000-225791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:225782000-225795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:225782400-225787600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:225782400-225795200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
27	chr1:225782600-225787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:225783200-225785800	Enhancers	HSMM	muscle
29	chr1:225783200-225786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:225783400-225786800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:225783400-225790400	Weak transcription	NH-A	brain
32	chr1:225783600-225786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:225783800-225785800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:225784000-225790600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:225784200-225787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:225784200-225790200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:225784200-225791400	Weak transcription	Fetal Lung	lung
38	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
39	chr1:225784400-225785800	Enhancers	Brain Anterior Caudate	brain
40	chr1:225784400-225791600	Weak transcription	HSMMtube	muscle
41	chr1:225784600-225785400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:225784600-225785600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:225784600-225785600	Weak transcription	NHEK	skin
44	chr1:225784800-225785400	Enhancers	Psoas Muscle	Psoas
45	chr1:225784800-225785600	Weak transcription	A549	lung
46	chr1:225784800-225786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:225784800-225787000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:225784800-225787600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:225784800-225789800	Weak transcription	Fetal Heart	heart
50	chr1:225784800-225790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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