Variant report

Variant	rs4284804
Chromosome Location	chr2:10722124-10722125
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	chr2:10719698..10722535-chr2:10800547..10802528,2	MCF-7	breast:
2	chr2:10720734..10723680-chr2:10724490..10727001,3	K562	blood:

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

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

rs_ID	r²[population]
rs10803723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464817	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13003763	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3814388	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669593	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9287719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:10713800-10725600	Strong transcription	K562	blood
14	chr2:10716800-10724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:10717000-10728800	Weak transcription	Colonic Mucosa	Colon
16	chr2:10717600-10723800	Weak transcription	NHDF-Ad	bronchial
17	chr2:10717600-10724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10717600-10724200	Weak transcription	Right Ventricle	heart
19	chr2:10717600-10725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
21	chr2:10717800-10722400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:10717800-10722400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:10717800-10722600	Weak transcription	Gastric	stomach
24	chr2:10717800-10722800	Weak transcription	Esophagus	oesophagus
25	chr2:10717800-10724000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:10717800-10724000	Weak transcription	Ovary	ovary
27	chr2:10717800-10725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:10717800-10725400	Weak transcription	NHLF	lung
29	chr2:10717800-10726000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:10717800-10726400	Weak transcription	HUVEC	blood vessel
31	chr2:10717800-10727600	Weak transcription	Brain Anterior Caudate	brain
32	chr2:10717800-10729000	Weak transcription	Small Intestine	intestine
33	chr2:10718000-10723200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:10718200-10723800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:10718200-10724000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:10718400-10722600	Weak transcription	Hela-S3	cervix
38	chr2:10718400-10723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:10718400-10723600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:10718400-10723600	Weak transcription	Osteobl	bone
41	chr2:10718400-10724000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:10718400-10724000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:10718400-10724200	Weak transcription	Fetal Brain Female	brain
44	chr2:10718600-10722200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:10718600-10724000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:10718600-10724600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:10718800-10722400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:10719000-10723600	Weak transcription	Placenta	Placenta
49	chr2:10719200-10723000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:10719400-10729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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