Variant report

Variant	rs1736564
Chromosome Location	chr1:171110055-171110056
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	chr1:171109416..171111104-chr1:171115194..171116914,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1736556	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1736561	0.84[EUR][1000 genomes]
rs1736565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736567	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1736568	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795240	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795241	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795243	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795244	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1795245	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795248	0.86[EUR][1000 genomes]
rs2075992	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281003	0.81[EUR][1000 genomes]
rs4916390	0.81[EUR][1000 genomes]
rs6608461	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171105400-171111200	Weak transcription	Aorta	Aorta
2	chr1:171105800-171110400	Enhancers	Fetal Lung	lung
3	chr1:171106400-171110400	Enhancers	Adipose Nuclei	Adipose
4	chr1:171107000-171110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:171107200-171110200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:171107200-171110800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:171107200-171111200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:171107200-171111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:171107200-171111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:171107200-171111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:171107800-171110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171107800-171112400	Enhancers	Fetal Muscle Leg	muscle
13	chr1:171108000-171112600	Weak transcription	Small Intestine	intestine
14	chr1:171108400-171112800	Enhancers	NHLF	lung
15	chr1:171108800-171110200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:171108800-171111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:171108800-171112400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:171108800-171112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:171109000-171110200	Enhancers	Right Atrium	heart
20	chr1:171109000-171111200	Enhancers	Fetal Intestine Small	intestine
21	chr1:171109000-171112200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:171109000-171112200	Enhancers	Stomach Mucosa	stomach
23	chr1:171109200-171110400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:171109200-171110600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:171109200-171111000	Enhancers	Fetal Intestine Large	intestine
26	chr1:171109200-171112000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:171109200-171112200	Weak transcription	Psoas Muscle	Psoas
28	chr1:171109200-171112400	Enhancers	Fetal Stomach	stomach
29	chr1:171109400-171110200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:171109400-171110400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:171109400-171110400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:171109400-171110400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:171109400-171110600	Weak transcription	Left Ventricle	heart
34	chr1:171109400-171111000	Enhancers	Liver	Liver
35	chr1:171109400-171111200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:171109400-171112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:171109400-171112800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:171109600-171111200	Enhancers	Fetal Heart	heart
39	chr1:171109800-171110400	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:171109800-171110400	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:171109800-171111800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:171110000-171111000	Weak transcription	Ovary	ovary

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