Variant report

Variant	rs56901340
Chromosome Location	chr1:71526218-71526219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:
2	chr1:71524441..71526375-chr1:71544715..71546592,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs17090783	1.00[EUR][1000 genomes]
rs17090812	1.00[EUR][1000 genomes]
rs2790678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2790679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55819706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56341122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56351207	1.00[AMR][1000 genomes]
rs5669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58051959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58742204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917466	1.00[AMR][1000 genomes]
rs74087146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087217	1.00[AMR][1000 genomes]
rs74087219	1.00[AMR][1000 genomes]
rs74087220	1.00[AMR][1000 genomes]
rs74087224	1.00[AMR][1000 genomes]
rs74089179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089196	1.00[EUR][1000 genomes]
rs74090215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090260	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537247	1.00[AMR][1000 genomes];1.00[EUR][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	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71527400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:71514000-71530600	Weak transcription	Ovary	ovary
4	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
5	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
6	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
7	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:71519000-71530200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:71519200-71533400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:71519400-71528200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:71519600-71528000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:71520000-71536800	Weak transcription	Aorta	Aorta
13	chr1:71520400-71533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:71520400-71534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:71520600-71526400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:71520600-71527200	Weak transcription	Fetal Kidney	kidney
17	chr1:71520600-71533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:71520600-71544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:71520800-71527400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:71521000-71529800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:71521200-71533600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:71521400-71530400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71521400-71544200	Strong transcription	Adipose Nuclei	Adipose
24	chr1:71521600-71528400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:71521600-71536800	Weak transcription	Stomach Mucosa	stomach
26	chr1:71521800-71526400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:71521800-71530400	Weak transcription	Small Intestine	intestine
28	chr1:71521800-71544600	Strong transcription	HSMM	muscle
29	chr1:71522000-71528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:71522000-71534400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:71522000-71543800	Strong transcription	Primary B cells from cord blood	blood
32	chr1:71522000-71544200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:71522000-71544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:71522000-71544200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:71522000-71544400	Strong transcription	HMEC	breast
36	chr1:71522200-71529000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:71522200-71532600	Strong transcription	GM12878-XiMat	blood
38	chr1:71522200-71534000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:71522200-71540800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:71522200-71544200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:71522200-71544600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:71522400-71530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:71522400-71544200	Strong transcription	Liver	Liver
44	chr1:71522600-71527400	Weak transcription	HepG2	liver
45	chr1:71522600-71532800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:71522600-71533400	Weak transcription	Fetal Stomach	stomach
47	chr1:71522600-71544200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:71522600-71544200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:71522600-71544400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:71522600-71544400	Strong transcription	NH-A	brain

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