Variant report

Variant	rs34600627
Chromosome Location	chr2:30627933-30627934
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	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10514771	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11127274	0.81[AMR][1000 genomes]
rs11127275	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12471197	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12475327	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12988691	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989601	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357851	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56375234	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735708	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs894787	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[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:69 , 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	chr2:30624000-30628000	Enhancers	HSMMtube	muscle
5	chr2:30624400-30629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
7	chr2:30625000-30628600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:30625400-30628000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:30626000-30628200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:30626000-30628400	Enhancers	Fetal Intestine Small	intestine
13	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
14	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
15	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
16	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
17	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:30626200-30628200	Enhancers	Adipose Nuclei	Adipose
19	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:30626600-30628000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30626600-30628000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:30626600-30628200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:30626600-30628400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:30626600-30628400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:30626600-30628600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:30626600-30628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30626600-30629400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:30626600-30629800	Enhancers	Ovary	ovary
29	chr2:30626800-30628000	Enhancers	HSMM	muscle
30	chr2:30626800-30628200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:30626800-30628200	Enhancers	Fetal Kidney	kidney
32	chr2:30626800-30628600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:30626800-30628800	Enhancers	Fetal Thymus	thymus
34	chr2:30627000-30628000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:30627000-30628200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:30627000-30628200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:30627000-30628200	Enhancers	Right Atrium	heart
38	chr2:30627000-30628400	Enhancers	NHDF-Ad	bronchial
39	chr2:30627000-30628400	Enhancers	NHLF	lung
40	chr2:30627200-30628200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:30627200-30628400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:30627200-30628400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:30627200-30628600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr2:30627200-30631000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:30627400-30628000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:30627400-30628200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr2:30627400-30628200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:30627400-30628200	Enhancers	Placenta	Placenta
49	chr2:30627400-30628200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:30627400-30628600	Enhancers	Primary T helper cells PMA-I stimulated	--

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