Variant report

Variant	rs12253290
Chromosome Location	chr10:27819021-27819022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27814281..27821266-chr10:27824273..27827197,8	K562	blood:
2	chr10:27790605..27793100-chr10:27816986..27820161,3	K562	blood:
3	chr10:27813292..27818525-chr10:27818980..27823484,5	K562	blood:
4	chr10:27808033..27809744-chr10:27817552..27819431,2	K562	blood:
5	chr10:27817702..27821230-chr10:27827784..27829695,3	MCF-7	breast:
6	chr10:27814407..27819485-chr10:27827965..27831348,4	K562	blood:
7	chr10:27810842..27813231-chr10:27815978..27819052,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10437434	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10508723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10764699	0.86[AFR][1000 genomes]
rs11015830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015838	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11015842	0.91[AFR][1000 genomes]
rs11015844	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11015848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015853	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12242968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12248740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12260532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12261373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12261690	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12263216	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12267298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368234	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59498921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60909738	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61486615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651381	0.93[AFR][1000 genomes];0.85[AMR][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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
4	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
5	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
6	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
8	chr10:27800800-27823200	Weak transcription	Brain Anterior Caudate	brain
9	chr10:27801800-27829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:27803200-27822600	Weak transcription	NH-A	brain
11	chr10:27803400-27822400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:27803400-27823200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:27803400-27823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:27803400-27830800	Weak transcription	Hela-S3	cervix
15	chr10:27804000-27822600	Weak transcription	Dnd41	blood
16	chr10:27804000-27823000	Weak transcription	Lung	lung
17	chr10:27804000-27823000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:27804000-27823200	Weak transcription	Gastric	stomach
19	chr10:27804000-27823400	Weak transcription	Aorta	Aorta
20	chr10:27804200-27822400	Weak transcription	HMEC	breast
21	chr10:27804200-27822600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:27804400-27822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:27804600-27822600	Weak transcription	Placenta	Placenta
24	chr10:27804600-27823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:27804600-27823000	Weak transcription	Fetal Intestine Large	intestine
26	chr10:27805600-27822800	Weak transcription	Fetal Thymus	thymus
27	chr10:27806000-27823200	Weak transcription	NHEK	skin
28	chr10:27807200-27820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:27811000-27823200	Weak transcription	Thymus	Thymus
30	chr10:27812600-27822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:27813200-27822800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:27813400-27820800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:27813400-27823200	Weak transcription	Fetal Intestine Small	intestine
34	chr10:27814000-27822600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:27814000-27822800	Weak transcription	GM12878-XiMat	blood
36	chr10:27814000-27823200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:27814200-27836000	Weak transcription	Brain Germinal Matrix	brain
38	chr10:27814600-27820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:27814600-27822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:27815000-27822600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:27815000-27822600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:27815000-27831000	Weak transcription	Fetal Heart	heart
43	chr10:27815000-27834400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:27815200-27821800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:27815400-27822200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:27815400-27823200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:27815400-27823200	Weak transcription	Pancreas	Pancrea
48	chr10:27815400-27823400	Weak transcription	Ovary	ovary
49	chr10:27815600-27819600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:27815600-27822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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