Variant report

Variant	rs72936085
Chromosome Location	chr2:39966700-39966701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39955286..39957836-chr2:39966525..39968843,2	K562	blood:
2	chr2:39965935..39968913-chr2:39970630..39974457,4	K562	blood:

Variant related genes	Relation type
ENSG00000138050	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs17024157	1.00[AMR][1000 genomes]
rs17024166	1.00[AMR][1000 genomes]
rs17024174	1.00[AMR][1000 genomes]
rs17024175	1.00[AMR][1000 genomes]
rs17024189	1.00[AMR][1000 genomes]
rs17024194	1.00[AMR][1000 genomes]
rs17024197	1.00[AMR][1000 genomes]
rs17024202	1.00[AMR][1000 genomes]
rs17024206	1.00[AMR][1000 genomes]
rs17024260	1.00[AMR][1000 genomes]
rs17024275	0.88[AFR][1000 genomes]
rs17024278	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024282	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17038962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57028848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57317087	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57564028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58054718	1.00[AMR][1000 genomes]
rs58462460	1.00[AMR][1000 genomes]
rs60131290	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934288	1.00[AMR][1000 genomes]
rs72934295	1.00[AMR][1000 genomes]
rs72934302	1.00[AMR][1000 genomes]
rs72936018	1.00[AMR][1000 genomes]
rs72936030	1.00[AMR][1000 genomes]
rs72936031	1.00[AMR][1000 genomes]
rs72936034	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936041	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936044	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936047	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936053	1.00[AMR][1000 genomes]
rs72936058	1.00[AMR][1000 genomes]
rs72936068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936072	1.00[AMR][1000 genomes]
rs72936073	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936076	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936078	1.00[AMR][1000 genomes]
rs72936079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938105	1.00[AMR][1000 genomes]
rs72938110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938118	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938132	0.84[AFR][1000 genomes]
rs72938134	1.00[AMR][1000 genomes]
rs72938145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs990404	1.00[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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
2	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
3	chr2:39959000-39971200	Strong transcription	Fetal Thymus	thymus
4	chr2:39959400-39967400	Strong transcription	A549	lung
5	chr2:39959400-39971000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:39959400-39974200	Strong transcription	Primary B cells from cord blood	blood
7	chr2:39959600-39967200	Strong transcription	HepG2	liver
8	chr2:39959800-39967000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:39960000-39969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:39960000-39971000	Strong transcription	K562	blood
11	chr2:39960000-39971200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:39960000-39971400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:39960000-39971800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:39960200-39971000	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:39960200-39973800	Strong transcription	Primary hematopoietic stem cells	blood
16	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:39960400-39970200	Strong transcription	GM12878-XiMat	blood
18	chr2:39960400-39973600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
20	chr2:39961200-39974600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:39961400-39969800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
23	chr2:39961600-39968800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:39961600-39971200	Strong transcription	Dnd41	blood
25	chr2:39961800-39971200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:39962000-39970600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:39962000-39971000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:39962000-39971200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:39962200-39966800	Strong transcription	Fetal Brain Female	brain
30	chr2:39962200-39967000	Strong transcription	Thymus	Thymus
31	chr2:39962200-39970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:39962200-39971000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:39962200-39971200	Strong transcription	Adipose Nuclei	Adipose
34	chr2:39962200-39986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:39962200-39993200	Strong transcription	Liver	Liver
36	chr2:39962400-39966800	Strong transcription	Spleen	Spleen
37	chr2:39962400-39968200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:39962400-39968200	Strong transcription	Fetal Stomach	stomach
39	chr2:39962400-39971000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:39962600-39967800	Strong transcription	Hela-S3	cervix
41	chr2:39962600-39970200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:39962600-39971000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:39962800-39967600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:39962800-39970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:39962800-39971000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:39962800-39971800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:39962800-39980200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:39963000-39967000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:39963000-39967000	Strong transcription	NHEK	skin
50	chr2:39963200-39969800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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