Variant report

Variant	rs894787
Chromosome Location	chr2:30628456-30628457
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	chr2:30628448..30631665-chr2:30638243..30640996,3	K562	blood:
2	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514771	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11127274	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11127275	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11885821	0.85[EUR][1000 genomes]
rs11885871	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11889918	0.84[EUR][1000 genomes]
rs12468604	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12471197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12471227	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12471481	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12475327	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12988691	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12989601	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13017527	0.84[EUR][1000 genomes]
rs13029614	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13034878	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1357851	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34145247	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34600627	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4572642	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4613331	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56375234	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706101	0.84[EUR][1000 genomes]
rs6710587	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6712757	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6719566	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6723368	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6726574	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6735708	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6748329	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6748436	0.84[EUR][1000 genomes]
rs6752411	0.84[EUR][1000 genomes]
rs7599885	0.90[CEU][hapmap]

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:65 , 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	chr2:30625000-30628600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
10	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
11	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
12	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
13	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:30626600-30628600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:30626600-30628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:30626600-30629400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:30626600-30629800	Enhancers	Ovary	ovary
19	chr2:30626800-30628600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:30626800-30628800	Enhancers	Fetal Thymus	thymus
21	chr2:30627200-30628600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:30627200-30631000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:30627400-30628600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:30627400-30628800	Enhancers	Primary T cells from cord blood	blood
25	chr2:30627400-30628800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
27	chr2:30627800-30629000	Enhancers	Brain Germinal Matrix	brain
28	chr2:30627800-30629400	Weak transcription	Lung	lung
29	chr2:30627800-30630400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:30627800-30630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:30627800-30630600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:30627800-30630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:30627800-30630600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:30627800-30630800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:30628000-30628600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:30628000-30629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:30628000-30630200	Weak transcription	HSMMtube	muscle
38	chr2:30628000-30630400	Weak transcription	HSMM	muscle
39	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:30628200-30628600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:30628200-30628600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:30628200-30629400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:30628200-30630400	Weak transcription	Placenta	Placenta
44	chr2:30628200-30630400	Weak transcription	Right Atrium	heart
45	chr2:30628200-30630400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:30628200-30630400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:30628200-30630400	Weak transcription	NH-A	brain
48	chr2:30628200-30630600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:30628200-30630600	Weak transcription	Fetal Kidney	kidney
50	chr2:30628200-30631000	Weak transcription	Primary T cells fromperipheralblood	blood

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