Variant report

Variant	rs7595917
Chromosome Location	chr2:10943000-10943001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
2	chr2:10917944..10920475-chr2:10941749..10943407,2	MCF-7	breast:
3	chr2:10942788..10944367-chr2:10946747..10949659,2	K562	blood:
4	chr2:10931309..10945449-chr2:10946731..10956927,22	K562	blood:
5	chr2:10933426..10935588-chr2:10941272..10943187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143870	Chromatin interaction
ENSG00000238962	Chromatin interaction
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10185558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198312	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13382264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856645	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60116713	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6432146	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6736555	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748808	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73170277	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73170293	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568342	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574339	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7574716	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9287723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
2	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
5	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:10918200-10943200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:10918400-10943200	Strong transcription	HSMM	muscle
14	chr2:10919600-10943800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:10920200-10943000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:10924600-10944400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:10925400-10943200	Strong transcription	HepG2	liver
18	chr2:10929400-10951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:10931200-10943400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:10931400-10943200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:10931600-10943200	Strong transcription	NHEK	skin
22	chr2:10933200-10943200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:10933400-10948600	Weak transcription	Pancreas	Pancrea
24	chr2:10935000-10943000	Strong transcription	Primary T cells from cord blood	blood
25	chr2:10935000-10943200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:10935000-10943400	Strong transcription	A549	lung
27	chr2:10935000-10943400	Strong transcription	Dnd41	blood
28	chr2:10935400-10948200	Weak transcription	Stomach Mucosa	stomach
29	chr2:10935600-10943800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:10936000-10948400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:10936000-10950400	Weak transcription	Gastric	stomach
32	chr2:10936600-10947200	Weak transcription	Small Intestine	intestine
33	chr2:10937200-10951000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:10937600-10950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:10937600-10950400	Weak transcription	Fetal Brain Male	brain
36	chr2:10937600-10951000	Weak transcription	Esophagus	oesophagus
37	chr2:10937800-10947000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:10937800-10949400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:10937800-10950000	Weak transcription	Fetal Heart	heart
40	chr2:10938200-10950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:10938600-10943000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:10938800-10943200	Strong transcription	Primary B cells from cord blood	blood
43	chr2:10938800-10943200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:10938800-10943200	Strong transcription	HMEC	breast
45	chr2:10939000-10943000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:10939000-10943200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:10939400-10943800	Strong transcription	K562	blood
48	chr2:10939600-10943200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:10939600-10943200	Strong transcription	HUVEC	blood vessel
50	chr2:10939800-10943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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