Variant report

Variant	rs1253404
Chromosome Location	chr10:98993498-98993499
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	chr10:98982062..98983736-chr10:98992807..98994462,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11189052	0.81[EUR][1000 genomes]
rs1147600	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1253394	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1253427	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13439	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1687369	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1687372	0.85[AMR][1000 genomes]
rs2009466	0.81[EUR][1000 genomes]
rs2484880	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2484881	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34787876	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61861820	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs701810	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701812	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701813	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701814	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701815	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs701816	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701817	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs701819	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs793515	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793516	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs793517	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs793518	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs946981	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3361060	chr10:98939103-99025202	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv1797410	chr10:98983785-99041740	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1040903	chr10:98986382-99047475	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98973800-99019000	Weak transcription	HepG2	liver
2	chr10:98976000-99011400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:98977200-99023800	Weak transcription	Colonic Mucosa	Colon
4	chr10:98977400-99027000	Weak transcription	Right Ventricle	heart
5	chr10:98978200-99003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:98978200-99003600	Weak transcription	NHEK	skin
7	chr10:98978600-99019000	Weak transcription	HSMMtube	muscle
8	chr10:98978600-99030400	Weak transcription	NH-A	brain
9	chr10:98978600-99037400	Weak transcription	HSMM	muscle
10	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:98979000-99027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:98979400-99000600	Strong transcription	Dnd41	blood
13	chr10:98979600-99003400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:98981000-99018200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:98981400-99025400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:98982400-98998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:98982400-99003400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:98982600-99007600	Weak transcription	Fetal Brain Female	brain
19	chr10:98982600-99007600	Weak transcription	Placenta	Placenta
20	chr10:98982600-99020800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:98982800-98999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:98983000-98994200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:98983000-99003400	Weak transcription	Brain Anterior Caudate	brain
24	chr10:98983000-99022000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:98983000-99027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:98983000-99027400	Weak transcription	Psoas Muscle	Psoas
27	chr10:98983000-99037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:98983200-98994600	Weak transcription	Ovary	ovary
29	chr10:98983200-99027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:98984600-98993600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:98984600-99003600	Weak transcription	Brain Substantia Nigra	brain
32	chr10:98984600-99037600	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:98984800-99002600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:98985000-98994200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:98985200-99002800	Weak transcription	Brain Germinal Matrix	brain
36	chr10:98985400-99015800	Weak transcription	HUVEC	blood vessel
37	chr10:98985400-99018800	Weak transcription	Stomach Mucosa	stomach
38	chr10:98986800-99021200	Weak transcription	Hela-S3	cervix
39	chr10:98986800-99022600	Weak transcription	Spleen	Spleen
40	chr10:98986800-99027000	Weak transcription	Brain Angular Gyrus	brain
41	chr10:98986800-99027800	Weak transcription	Gastric	stomach
42	chr10:98987200-98995200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:98987200-99010600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:98987200-99029200	Weak transcription	HMEC	breast
45	chr10:98987200-99051200	Weak transcription	Pancreas	Pancrea
46	chr10:98988800-99027000	Weak transcription	Small Intestine	intestine
47	chr10:98988800-99028200	Weak transcription	Esophagus	oesophagus
48	chr10:98989000-98998600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:98989000-99034600	Weak transcription	Aorta	Aorta
50	chr10:98989200-98993800	Weak transcription	Fetal Muscle Leg	muscle

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