Variant report

Variant	rs2363985
Chromosome Location	chr2:30816562-30816563
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17009876	0.82[AFR][1000 genomes]
rs6737498	0.81[AFR][1000 genomes]
rs6748456	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
9	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
13	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:30807400-30831200	Weak transcription	K562	blood
18	chr2:30807600-30818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:30808000-30817400	Weak transcription	GM12878-XiMat	blood
21	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:30808400-30818600	Weak transcription	Gastric	stomach
23	chr2:30809800-30816600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:30809800-30822200	Weak transcription	Primary T cells from cord blood	blood
25	chr2:30810200-30818200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30811200-30821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:30811200-30821600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:30811400-30824800	Weak transcription	Aorta	Aorta
29	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
30	chr2:30811600-30822800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:30811600-30863000	Weak transcription	Ovary	ovary
32	chr2:30811800-30827000	Weak transcription	Left Ventricle	heart
33	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:30813200-30832800	Weak transcription	Fetal Heart	heart
35	chr2:30815000-30834400	Weak transcription	Fetal Lung	lung

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