Variant report

Variant	rs788228
Chromosome Location	chr10:27483356-27483357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:27483233-27483395	K562	blood:	n/a	n/a
2	POLR2A	chr10:27483309-27483478	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU2-24P	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1144509	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1262128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12763511	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12764139	0.83[ASN][1000 genomes]
rs12771194	0.88[ASN][1000 genomes]
rs12772181	0.83[ASN][1000 genomes]
rs12772875	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12782501	0.82[ASN][1000 genomes]
rs12783136	0.82[ASN][1000 genomes]
rs1618826	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1753387	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1753394	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775348	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775354	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1974364	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274636	0.83[ASN][1000 genomes]
rs2274637	0.83[ASN][1000 genomes]
rs2780677	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2800399	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2800402	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34056679	0.83[ASN][1000 genomes]
rs34124770	0.88[ASN][1000 genomes]
rs34341620	0.82[ASN][1000 genomes]
rs34383490	0.82[ASN][1000 genomes]
rs34522667	0.87[ASN][1000 genomes]
rs34743977	0.88[ASN][1000 genomes]
rs35149458	0.88[ASN][1000 genomes]
rs35462097	0.83[ASN][1000 genomes]
rs35928931	0.82[ASN][1000 genomes]
rs36050714	0.83[ASN][1000 genomes]
rs3758438	0.82[ASN][1000 genomes]
rs4749239	0.83[ASN][1000 genomes]
rs480738	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs484172	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs501495	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs527192	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs534226	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs559839	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57671772	0.83[ASN][1000 genomes]
rs604705	0.81[EUR][1000 genomes]
rs618050	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs623380	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs624106	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs640284	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs642428	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs642430	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6482604	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7078662	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72807660	0.83[ASN][1000 genomes]
rs788199	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788201	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788202	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788203	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788205	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788207	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788212	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs788215	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs788216	0.86[AMR][1000 genomes]
rs788230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788232	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
4	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
6	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
8	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
10	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
11	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
13	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
14	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
18	chr10:27456800-27487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:27457600-27485200	Weak transcription	Brain Angular Gyrus	brain
20	chr10:27459000-27484400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:27459200-27489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:27464800-27492800	Weak transcription	HSMMtube	muscle
23	chr10:27466600-27484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:27466600-27484800	Weak transcription	Left Ventricle	heart
25	chr10:27466800-27485200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:27466800-27488400	Weak transcription	HepG2	liver
27	chr10:27467000-27485000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:27467200-27485000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:27469800-27490600	Weak transcription	Gastric	stomach
30	chr10:27470000-27485200	Weak transcription	Fetal Brain Female	brain
31	chr10:27473200-27487600	Weak transcription	Lung	lung
32	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
33	chr10:27473400-27484200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:27473600-27484800	Weak transcription	Fetal Intestine Large	intestine
35	chr10:27474200-27487200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:27474200-27489600	Weak transcription	Ovary	ovary
37	chr10:27474200-27490600	Weak transcription	Brain Anterior Caudate	brain
38	chr10:27474200-27490800	Weak transcription	Fetal Kidney	kidney
39	chr10:27474200-27494400	Weak transcription	NHEK	skin
40	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:27474400-27485200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:27474400-27486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr10:27474400-27492800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr10:27475400-27486400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:27475600-27484000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr10:27475600-27484000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:27475600-27484800	Weak transcription	Primary T cells from cord blood	blood
48	chr10:27475600-27488000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:27475600-27490800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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