Variant report

Variant	rs1144472
Chromosome Location	chr10:44853859-44853860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44852711..44854577-chr10:44854628..44857238,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1107008	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1144474	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1144475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1144476	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1144477	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1144478	0.84[EUR][1000 genomes]
rs1144479	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1144480	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1147877	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1147878	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1147879	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147880	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1147881	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874304	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs920173	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs920174	0.89[EUR][1000 genomes];0.84[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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1052337	chr10:44821390-44865015	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44838600-44867400	Weak transcription	Spleen	Spleen
2	chr10:44848200-44858600	Weak transcription	Psoas Muscle	Psoas
3	chr10:44848200-44864600	Weak transcription	Fetal Kidney	kidney
4	chr10:44848200-44865000	Weak transcription	Osteobl	bone
5	chr10:44848400-44865000	Weak transcription	Right Atrium	heart
6	chr10:44848400-44867400	Weak transcription	Adipose Nuclei	Adipose
7	chr10:44848400-44867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:44849400-44869000	Weak transcription	Right Ventricle	heart
9	chr10:44849800-44864800	Weak transcription	Left Ventricle	heart
10	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:44851400-44854200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr10:44851800-44854000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:44851800-44854800	Enhancers	Fetal Lung	lung
14	chr10:44852000-44855000	Enhancers	Fetal Stomach	stomach
15	chr10:44852600-44854200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:44852600-44858600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:44852800-44855200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:44852800-44858400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:44853000-44856600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:44853000-44858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:44853400-44854200	Enhancers	Colon Smooth Muscle	Colon
22	chr10:44853600-44854000	Enhancers	Brain Hippocampus Middle	brain
23	chr10:44853600-44854000	Enhancers	Pancreas	Pancrea
24	chr10:44853600-44854200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:44853600-44854400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:44853600-44854400	Enhancers	Brain Substantia Nigra	brain
27	chr10:44853600-44854800	Enhancers	Stomach Smooth Muscle	stomach
28	chr10:44853800-44854000	Enhancers	Fetal Intestine Small	intestine
29	chr10:44853800-44854000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:44853800-44854200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:44853800-44854200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:44853800-44854200	Enhancers	Ovary	ovary

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