Variant report

Variant	rs72861408
Chromosome Location	chr1:10124232-10124233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10123267..10128743-chr1:10130766..10138737,8	K562	blood:
2	chr1:10118522..10121469-chr1:10122769..10126938,6	K562	blood:
3	chr1:10111075..10113333-chr1:10123420..10125098,2	K562	blood:
4	chr1:9968902..9971327-chr1:10123444..10125645,2	K562	blood:

Variant related genes	Relation type
ENSG00000233623	Chromatin interaction
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17034493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4388708	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61760196	0.86[ASN][1000 genomes]
rs72861422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72861457	0.82[ASN][1000 genomes]
rs72861493	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
6	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
12	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:10107600-10125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:10109000-10126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:10111400-10125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:10111400-10127000	Weak transcription	Fetal Lung	lung
24	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:10114800-10125200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
27	chr1:10118000-10125600	Weak transcription	HSMM	muscle
28	chr1:10118200-10124400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:10118200-10125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:10118200-10125200	Weak transcription	Osteobl	bone
31	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
32	chr1:10118400-10125200	Weak transcription	Fetal Heart	heart
33	chr1:10118400-10127000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:10118600-10125200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:10118600-10126200	Weak transcription	HSMMtube	muscle
36	chr1:10118800-10124400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:10118800-10125400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:10118800-10132000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:10119400-10125400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:10119600-10124400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:10119600-10125200	Weak transcription	NHLF	lung
43	chr1:10119600-10132000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:10119800-10124600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:10119800-10125000	Weak transcription	HepG2	liver
46	chr1:10119800-10125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:10119800-10125200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:10119800-10125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:10119800-10125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:10119800-10125600	Weak transcription	GM12878-XiMat	blood

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