Variant report

Variant	rs655213
Chromosome Location	chr1:210503344-210503345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210499300..210503346-chr1:210545682..210548805,5	K562	blood:
2	chr1:210497683..210507034-chr1:210544536..210549319,22	MCF-7	breast:
3	chr1:210405800..210407964-chr1:210502205..210503882,2	MCF-7	breast:
4	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1883655	0.85[ASN][1000 genomes]
rs2015743	0.80[ASN][1000 genomes]
rs2103691	0.85[ASN][1000 genomes]
rs2143590	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3765880	0.85[ASN][1000 genomes]
rs589027	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs590883	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs642116	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs684767	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs764585	0.87[ASN][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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210501600-210503400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:210501800-210503400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:210501800-210503400	Active TSS	Fetal Kidney	kidney
4	chr1:210502000-210503400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:210502000-210503400	Active TSS	Colonic Mucosa	Colon
6	chr1:210502000-210503400	Active TSS	Colon Smooth Muscle	Colon
7	chr1:210502400-210503400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:210502600-210503400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:210502600-210503400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:210502600-210503600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:210502600-210504000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:210502800-210503400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:210502800-210503400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:210502800-210503400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr1:210502800-210503400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:210502800-210503400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:210502800-210503400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:210502800-210503400	Flanking Active TSS	Fetal Lung	lung
19	chr1:210502800-210503400	Flanking Active TSS	GM12878-XiMat	blood
20	chr1:210502800-210503400	Flanking Active TSS	NHEK	skin
21	chr1:210502800-210503600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:210502800-210503600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:210502800-210503600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:210502800-210503600	Flanking Active TSS	Dnd41	blood
25	chr1:210502800-210504000	Enhancers	Spleen	Spleen
26	chr1:210503000-210503400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:210503000-210503400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:210503000-210503400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:210503000-210503400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr1:210503000-210503400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:210503000-210503400	Flanking Active TSS	A549	lung
32	chr1:210503000-210503400	Flanking Active TSS	HepG2	liver
33	chr1:210503000-210503600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:210503000-210503600	Weak transcription	Small Intestine	intestine
35	chr1:210503000-210503800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr1:210503000-210504000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:210503000-210505600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:210503000-210506000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:210503200-210503400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:210503200-210503400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:210503200-210503400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:210503200-210503400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:210503200-210503400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:210503200-210503400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:210503200-210503400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:210503200-210503400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:210503200-210503400	Enhancers	Brain Hippocampus Middle	brain
48	chr1:210503200-210503400	Enhancers	Esophagus	oesophagus
49	chr1:210503200-210503400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr1:210503200-210503400	Enhancers	Fetal Muscle Leg	muscle

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