Variant report

Variant	rs2780681
Chromosome Location	chr10:27512767-27512768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27503068..27505170-chr10:27511263..27513573,2	K562	blood:
2	chr10:27511405..27514372-chr10:27529616..27531388,2	K562	blood:
3	chr10:27508030..27510726-chr10:27511463..27512978,2	K562	blood:
4	chr10:27511969..27517991-chr10:27527633..27531388,6	K562	blood:
5	chr10:27511986..27514445-chr10:27529817..27531647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10430598	0.81[ASN][1000 genomes]
rs10430599	0.81[ASN][1000 genomes]
rs10741130	0.81[AMR][1000 genomes]
rs10764684	0.81[AMR][1000 genomes]
rs10764690	0.98[ASN][1000 genomes]
rs10829208	0.85[AMR][1000 genomes]
rs10829212	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1144510	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1144511	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148167	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12762457	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1328602	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1338	0.81[AMR][1000 genomes]
rs1557168	0.81[AMR][1000 genomes]
rs1557170	0.81[AMR][1000 genomes]
rs1780091	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2040038	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2770202	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780667	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780669	0.83[EUR][1000 genomes]
rs2780672	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780674	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780675	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800392	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35805599	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4747588	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4749240	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61849039	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7086553	0.85[AMR][1000 genomes]
rs7919523	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7924231	0.81[AMR][1000 genomes]
rs882474	0.83[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	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
4	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
2	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
5	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
7	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
9	chr10:27494800-27528200	Weak transcription	K562	blood
10	chr10:27500000-27528000	Weak transcription	NHLF	lung
11	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr10:27500200-27519800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:27500800-27528000	Weak transcription	HMEC	breast
14	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:27504000-27515400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
18	chr10:27504800-27514600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
20	chr10:27505600-27519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:27505600-27528000	Weak transcription	NHEK	skin
22	chr10:27506000-27519800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:27506600-27512800	Strong transcription	Fetal Muscle Leg	muscle
24	chr10:27506600-27512800	Strong transcription	Fetal Thymus	thymus
25	chr10:27507400-27512800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:27508200-27515400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:27508600-27516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:27508600-27519800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
32	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr10:27508800-27516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:27508800-27516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:27508800-27518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:27508800-27519400	Weak transcription	Gastric	stomach
37	chr10:27508800-27522000	Weak transcription	Lung	lung
38	chr10:27508800-27523400	Weak transcription	HepG2	liver
39	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
40	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
41	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
42	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
44	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
45	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
46	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
47	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
48	chr10:27509000-27513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:27509000-27514800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:27509400-27522400	Weak transcription	Ovary	ovary

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