Variant report

Variant	rs4669596
Chromosome Location	chr2:10720572-10720573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10719698..10722535-chr2:10800547..10802528,2	MCF-7	breast:
2	chr2:10719200..10721261-chr2:10727645..10731162,3	K562	blood:
3	chr2:10719236..10721261-chr2:10727853..10731162,3	K562	blood:
4	chr2:10586791..10588467-chr2:10719063..10720945,2	K562	blood:
5	chr2:10715800..10717815-chr2:10720072..10721815,2	MCF-7	breast:
6	chr2:10719786..10721769-chr2:10722160..10724632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000234818	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10803723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13003763	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3814388	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4284804	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669593	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6748036	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570118	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9287719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
7	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
12	chr2:10710800-10721800	Weak transcription	Fetal Heart	heart
13	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:10713800-10725600	Strong transcription	K562	blood
16	chr2:10716800-10724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:10717000-10728800	Weak transcription	Colonic Mucosa	Colon
18	chr2:10717600-10721200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:10717600-10723800	Weak transcription	NHDF-Ad	bronchial
20	chr2:10717600-10724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:10717600-10724200	Weak transcription	Right Ventricle	heart
22	chr2:10717600-10725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
24	chr2:10717800-10721200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:10717800-10721200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:10717800-10721400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:10717800-10721400	Weak transcription	Fetal Stomach	stomach
28	chr2:10717800-10721400	Weak transcription	Lung	lung
29	chr2:10717800-10721400	Weak transcription	Spleen	Spleen
30	chr2:10717800-10722400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:10717800-10722400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:10717800-10722600	Weak transcription	Gastric	stomach
33	chr2:10717800-10722800	Weak transcription	Esophagus	oesophagus
34	chr2:10717800-10724000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:10717800-10724000	Weak transcription	Ovary	ovary
36	chr2:10717800-10725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:10717800-10725400	Weak transcription	NHLF	lung
38	chr2:10717800-10726000	Weak transcription	Brain Germinal Matrix	brain
39	chr2:10717800-10726400	Weak transcription	HUVEC	blood vessel
40	chr2:10717800-10727600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:10717800-10729000	Weak transcription	Small Intestine	intestine
42	chr2:10718000-10721400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:10718000-10721400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10718000-10721600	Weak transcription	Aorta	Aorta
45	chr2:10718000-10721600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:10718000-10723200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:10718200-10721200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:10718200-10723800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:10718200-10724000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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