Variant report

Variant	rs2675105
Chromosome Location	chr2:183990829-183990830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:
2	chr2:183989189..183990903-chr2:184002119..184004777,2	MCF-7	breast:
3	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
4	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
5	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
6	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
7	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:
8	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:
9	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2254879	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2675104	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:183988400-183991000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:183988400-183991000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:183988400-183991200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:183988400-183991200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:183988400-183991600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:183988800-183991200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:183988800-183991600	Active TSS	K562	blood
10	chr2:183989600-183991000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr2:183989800-183991000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:183990000-183991000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:183990000-183991000	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr2:183990000-183991000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr2:183990000-183996200	Weak transcription	Lung	lung
16	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
17	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
18	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
21	chr2:183990200-183991000	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:183990200-183991000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:183990200-183991000	Enhancers	Adipose Nuclei	Adipose
24	chr2:183990200-183991000	Enhancers	Brain Hippocampus Middle	brain
25	chr2:183990200-183991000	Enhancers	Right Ventricle	heart
26	chr2:183990200-183991000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:183990200-183991000	Enhancers	HSMM	muscle
28	chr2:183990200-183991200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:183990200-183991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:183990200-183991200	Enhancers	Fetal Brain Male	brain
31	chr2:183990200-183991400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:183990200-183991400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:183990200-183991600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:183990200-183993600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:183990200-183995000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
38	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
39	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:183990400-183991000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:183990400-183991000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:183990400-183991000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:183990400-183991000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:183990400-183991000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:183990400-183991000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:183990400-183991000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:183990400-183991000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:183990400-183991000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:183990400-183991000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:183990400-183991000	Flanking Active TSS	Fetal Brain Female	brain

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