Variant report

Variant	rs28576781
Chromosome Location	chr2:178407744-178407745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178403544..178410128-chr2:178412560..178418527,8	K562	blood:
2	chr2:178406208..178409033-chr2:178580578..178582428,2	K562	blood:
3	chr2:178406620..178408509-chr2:178480094..178481704,2	K562	blood:
4	chr2:178393145..178396316-chr2:178404411..178407832,3	K562	blood:

Variant related genes	Relation type
ENSG00000196659	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10497496	1.00[EUR][1000 genomes]
rs13403948	1.00[EUR][1000 genomes]
rs16865293	1.00[EUR][1000 genomes]
rs16865316	1.00[EUR][1000 genomes]
rs16865334	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16865384	1.00[EUR][1000 genomes]
rs16865494	1.00[EUR][1000 genomes]
rs16865503	1.00[EUR][1000 genomes]
rs6708473	1.00[EUR][1000 genomes]
rs6726942	0.85[AMR][1000 genomes]
rs6740156	0.98[AFR][1000 genomes]
rs73025664	0.85[AMR][1000 genomes]
rs73025688	0.85[AMR][1000 genomes]
rs73025689	0.85[AMR][1000 genomes]
rs73031241	0.85[AMR][1000 genomes]
rs73031249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73031280	0.85[AMR][1000 genomes]
rs73040804	1.00[EUR][1000 genomes]
rs73040805	1.00[EUR][1000 genomes]
rs7568487	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
2	chr2:178349800-178407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
4	chr2:178364400-178416600	Weak transcription	Esophagus	oesophagus
5	chr2:178372800-178416600	Weak transcription	A549	lung
6	chr2:178375600-178413800	Weak transcription	K562	blood
7	chr2:178376200-178407800	Weak transcription	Left Ventricle	heart
8	chr2:178376200-178416600	Weak transcription	Pancreas	Pancrea
9	chr2:178378400-178410000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:178388600-178416600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:178389000-178407800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:178389000-178408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:178389000-178416800	Weak transcription	Small Intestine	intestine
14	chr2:178389200-178416600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:178389800-178410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:178389800-178416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:178390600-178416600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:178391000-178413400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:178391800-178408000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:178392000-178416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:178397600-178410600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:178401000-178416600	Weak transcription	Lung	lung
23	chr2:178402800-178416600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:178403400-178410400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:178403600-178408200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:178403600-178408400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:178403600-178411200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:178403600-178416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:178403800-178408400	Weak transcription	Dnd41	blood
30	chr2:178403800-178409000	Weak transcription	Liver	Liver
31	chr2:178403800-178409600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:178403800-178410000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:178403800-178416600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:178403800-178416800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:178404000-178408600	Weak transcription	Placenta	Placenta
36	chr2:178404000-178412000	Weak transcription	HUVEC	blood vessel
37	chr2:178405400-178416600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:178405400-178416800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:178406200-178409000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:178406200-178416600	Weak transcription	HepG2	liver
41	chr2:178406400-178409000	Weak transcription	GM12878-XiMat	blood
42	chr2:178406600-178408600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:178407000-178407800	Enhancers	NH-A	brain
44	chr2:178407000-178408000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:178407000-178408400	Enhancers	Osteobl	bone
46	chr2:178407200-178408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:178407200-178409200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:178407200-178409200	Enhancers	Colon Smooth Muscle	Colon
49	chr2:178407400-178408800	Enhancers	HSMM	muscle
50	chr2:178407400-178408800	Enhancers	HSMMtube	muscle

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