Variant report

Variant	rs12036299
Chromosome Location	chr1:161027668-161027669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161014603..161017982-chr1:161025944..161029502,5	K562	blood:
2	chr1:161027661..161029495-chr1:161060033..161062116,2	K562	blood:

Variant related genes	Relation type
ENSG00000158773	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1556259	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1556260	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16832617	0.83[AMR][1000 genomes]
rs1974140	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2073653	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3766382	0.81[EUR][1000 genomes]
rs3766383	0.81[EUR][1000 genomes]
rs4617422	0.81[AMR][1000 genomes]
rs58318788	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58974723	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6427572	0.80[AFR][1000 genomes]
rs6427573	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6660240	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6686076	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7516231	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
2	chr1:161016600-161028000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:161016800-161029200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:161017000-161029400	Strong transcription	Primary T cells from cord blood	blood
5	chr1:161017000-161031600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:161017000-161032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:161017200-161029200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:161017200-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:161017400-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:161017400-161031000	Strong transcription	Thymus	Thymus
11	chr1:161017600-161034400	Strong transcription	Fetal Thymus	thymus
12	chr1:161018600-161032400	Strong transcription	Primary B cells from cord blood	blood
13	chr1:161018600-161033600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:161018800-161028200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:161019400-161029400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:161021400-161034000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:161021600-161029400	Weak transcription	Stomach Mucosa	stomach
18	chr1:161021600-161033000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:161021600-161038400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:161022600-161028200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:161022800-161029200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:161022800-161031800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:161023200-161029800	Weak transcription	Gastric	stomach
24	chr1:161024400-161030600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:161024800-161038200	Weak transcription	Lung	lung
26	chr1:161025800-161028000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:161026200-161028200	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:161026200-161029800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:161026400-161027800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:161026400-161028000	Strong transcription	Spleen	Spleen
31	chr1:161026400-161029800	Weak transcription	Liver	Liver
32	chr1:161026400-161039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:161026600-161029800	Weak transcription	Adipose Nuclei	Adipose
34	chr1:161026600-161036600	Weak transcription	Placenta	Placenta
35	chr1:161026800-161035000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:161027200-161029200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:161027200-161036200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:161027400-161029000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:161027400-161029000	Weak transcription	Dnd41	blood
40	chr1:161027400-161029200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:161027400-161029200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:161027400-161029200	Weak transcription	GM12878-XiMat	blood
43	chr1:161027400-161037800	Weak transcription	Esophagus	oesophagus
44	chr1:161027600-161029200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:161027600-161029200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:161027600-161029400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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