Variant report

Variant	rs58936343
Chromosome Location	chr2:178273991-178273992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178270779..178272321-chr2:178273568..178275361,2	K562	blood:
2	chr2:178271907..178274801-chr2:178278003..178280488,3	K562	blood:
3	chr2:178273243..178275021-chr2:178276662..178279339,2	K562	blood:
4	chr2:178272386..178275782-chr2:178280969..178284019,3	K562	blood:
5	chr2:178264137..178265946-chr2:178272662..178275234,2	K562	blood:
6	chr2:178263413..178265591-chr2:178272891..178275550,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10173667	1.00[AMR][1000 genomes]
rs10186918	1.00[AMR][1000 genomes]
rs11892161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900380	1.00[AMR][1000 genomes]
rs13413244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420517	1.00[AMR][1000 genomes]
rs28552775	1.00[AMR][1000 genomes]
rs60692804	1.00[AMR][1000 genomes]
rs6758141	1.00[AMR][1000 genomes]
rs73976182	1.00[AMR][1000 genomes]
rs73976751	1.00[AMR][1000 genomes]
rs73979736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917195	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv961533	chr2:178272954-178276627	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178277200	Weak transcription	Right Ventricle	heart
2	chr2:178258800-178285000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
4	chr2:178260200-178280200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:178260400-178285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:178262800-178279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:178263200-178275400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:178264200-178282800	Weak transcription	Dnd41	blood
10	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:178264400-178280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:178265600-178287000	Weak transcription	K562	blood
13	chr2:178266000-178280200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:178268200-178277000	Weak transcription	Fetal Stomach	stomach
15	chr2:178268800-178278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:178269000-178278200	Weak transcription	A549	lung
17	chr2:178269200-178283000	Weak transcription	HSMM	muscle
18	chr2:178269200-178283000	Weak transcription	Osteobl	bone
19	chr2:178270000-178274200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:178270000-178280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:178270200-178275400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:178270200-178278200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:178270200-178280800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:178270400-178281000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:178270400-178281000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:178270800-178277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:178271000-178274200	Weak transcription	Fetal Intestine Small	intestine
29	chr2:178271000-178274400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:178271000-178274400	Weak transcription	Small Intestine	intestine
31	chr2:178271200-178274000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:178271200-178276000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:178271800-178274400	Weak transcription	Lung	lung
34	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:178272400-178274600	Weak transcription	Pancreas	Pancrea
36	chr2:178272400-178285600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:178272800-178274400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr2:178272800-178274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:178272800-178274600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:178272800-178295200	Weak transcription	Left Ventricle	heart
41	chr2:178273000-178274400	Weak transcription	HepG2	liver
42	chr2:178273000-178275400	Weak transcription	Psoas Muscle	Psoas
43	chr2:178273000-178288800	Weak transcription	GM12878-XiMat	blood
44	chr2:178273200-178274600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:178273400-178274200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:178273400-178274600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr2:178273400-178286600	Weak transcription	HSMMtube	muscle
48	chr2:178273400-178288600	Weak transcription	Primary T cells from cord blood	blood
49	chr2:178273800-178275000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:178273800-178276400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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