Variant report

Variant	rs2885530
Chromosome Location	chr2:30628756-30628757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30628448..30631665-chr2:30638243..30640996,3	K562	blood:
2	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13423099	0.85[ASN][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	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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
3	chr2:30622800-30630400	Enhancers	Colon Smooth Muscle	Colon
4	chr2:30624400-30629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
6	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
9	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
10	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
11	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:30626600-30628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:30626600-30629400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:30626600-30629800	Enhancers	Ovary	ovary
16	chr2:30626800-30628800	Enhancers	Fetal Thymus	thymus
17	chr2:30627200-30631000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:30627400-30628800	Enhancers	Primary T cells from cord blood	blood
19	chr2:30627400-30628800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
21	chr2:30627800-30629000	Enhancers	Brain Germinal Matrix	brain
22	chr2:30627800-30629400	Weak transcription	Lung	lung
23	chr2:30627800-30630400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:30627800-30630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:30627800-30630600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:30627800-30630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:30627800-30630600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:30627800-30630800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:30628000-30629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:30628000-30630200	Weak transcription	HSMMtube	muscle
31	chr2:30628000-30630400	Weak transcription	HSMM	muscle
32	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:30628200-30629400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:30628200-30630400	Weak transcription	Placenta	Placenta
35	chr2:30628200-30630400	Weak transcription	Right Atrium	heart
36	chr2:30628200-30630400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:30628200-30630400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:30628200-30630400	Weak transcription	NH-A	brain
39	chr2:30628200-30630600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:30628200-30630600	Weak transcription	Fetal Kidney	kidney
41	chr2:30628200-30631000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:30628200-30633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:30628400-30629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:30628400-30629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:30628400-30629800	Weak transcription	NHDF-Ad	bronchial
47	chr2:30628400-30630200	Weak transcription	NHLF	lung
48	chr2:30628400-30630400	Weak transcription	Small Intestine	intestine
49	chr2:30628400-30630400	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:30628400-30630400	Weak transcription	Thymus	Thymus

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