Variant report

Variant	rs56011298
Chromosome Location	chr2:10824397-10824398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10819657..10821500-chr2:10821879..10824804,2	K562	blood:
2	chr2:10824091..10826536-chr2:10834635..10836998,2	MCF-7	breast:
3	chr2:10824192..10826909-chr2:10951623..10954043,2	K562	blood:
4	chr2:10822225..10825450-chr2:10827057..10830175,3	MCF-7	breast:
5	chr2:10823668..10826094-chr2:10871216..10873959,2	K562	blood:

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11676409	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12474625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475662	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12692420	0.88[ASN][1000 genomes]
rs12998055	0.83[AFR][1000 genomes]
rs13009015	0.80[ASN][1000 genomes]
rs13010694	0.81[AFR][1000 genomes]
rs13027316	0.88[ASN][1000 genomes]
rs13407040	0.88[ASN][1000 genomes]
rs13430911	0.80[ASN][1000 genomes]
rs1861299	0.80[ASN][1000 genomes]
rs1861300	0.80[ASN][1000 genomes]
rs35859525	0.88[ASN][1000 genomes]
rs35978327	0.83[AFR][1000 genomes]
rs55974540	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56894002	0.83[AFR][1000 genomes]
rs60280697	0.83[AFR][1000 genomes]
rs61275271	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62127189	0.80[ASN][1000 genomes]
rs62127197	0.86[ASN][1000 genomes]
rs62127229	0.83[AFR][1000 genomes]
rs6740245	0.80[ASN][1000 genomes]
rs6755281	0.80[ASN][1000 genomes]
rs744809	0.83[ASN][1000 genomes]
rs9287721	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	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
2	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
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
6	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
13	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:10808200-10828000	Weak transcription	Gastric	stomach
16	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:10808400-10828000	Weak transcription	NHLF	lung
18	chr2:10810200-10826600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:10810400-10824800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:10811600-10824800	Strong transcription	HepG2	liver
21	chr2:10812400-10826400	Weak transcription	Spleen	Spleen
22	chr2:10812400-10827400	Weak transcription	Esophagus	oesophagus
23	chr2:10812400-10827400	Weak transcription	Right Ventricle	heart
24	chr2:10813200-10826400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:10813200-10827400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:10813200-10828000	Weak transcription	Lung	lung
27	chr2:10813200-10828200	Weak transcription	Small Intestine	intestine
28	chr2:10813200-10828400	Weak transcription	HSMMtube	muscle
29	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:10815000-10827600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10816000-10826600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:10816400-10827400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10816600-10826600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:10816600-10826800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:10816800-10826600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:10817600-10825200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:10817600-10825800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:10817800-10825000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:10818000-10825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:10818400-10828200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:10818600-10826400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:10819200-10828400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:10820400-10824600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:10820400-10824800	Strong transcription	Liver	Liver
46	chr2:10820400-10826400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:10820600-10824600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:10820600-10827600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10820800-10824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:10820800-10824800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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