Variant report

Variant	rs829585
Chromosome Location	chr2:30627412-30627413
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1001202	1.00[ASN][1000 genomes]
rs1001203	1.00[ASN][1000 genomes]
rs11127261	1.00[ASN][1000 genomes]
rs11127262	1.00[ASN][1000 genomes]
rs11675079	1.00[ASN][1000 genomes]
rs11679132	1.00[ASN][1000 genomes]
rs11679137	1.00[ASN][1000 genomes]
rs11681350	1.00[ASN][1000 genomes]
rs11688651	1.00[ASN][1000 genomes]
rs11690392	1.00[ASN][1000 genomes]
rs11690435	1.00[ASN][1000 genomes]
rs11690629	1.00[ASN][1000 genomes]
rs11694534	1.00[ASN][1000 genomes]
rs11694679	1.00[ASN][1000 genomes]
rs12714304	1.00[ASN][1000 genomes]
rs12986509	1.00[ASN][1000 genomes]
rs12989107	1.00[ASN][1000 genomes]
rs12996578	1.00[ASN][1000 genomes]
rs13026847	1.00[ASN][1000 genomes]
rs13027149	1.00[ASN][1000 genomes]
rs13030064	1.00[ASN][1000 genomes]
rs13422834	1.00[ASN][1000 genomes]
rs34097147	1.00[ASN][1000 genomes]
rs35163883	1.00[ASN][1000 genomes]
rs71444463	1.00[ASN][1000 genomes]
rs829667	1.00[AFR][1000 genomes]
rs906864	1.00[ASN][1000 genomes]
rs9967840	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3459512	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3459513	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv11669	chr2:30615374-30627773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2763638	chr2:30615651-30627654	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581261	chr2:30623062-30627654	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv581265	chr2:30623391-30627654	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 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	chr2:30625200-30627600	Weak transcription	Thymus	Thymus
10	chr2:30625400-30627800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:30625400-30628000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:30626000-30628200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:30626000-30628400	Enhancers	Fetal Intestine Small	intestine
15	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
16	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
17	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
18	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
19	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30626200-30628200	Enhancers	Adipose Nuclei	Adipose
21	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:30626600-30627800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:30626600-30628000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30626600-30628000	Enhancers	Brain Hippocampus Middle	brain
25	chr2:30626600-30628200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:30626600-30628400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:30626600-30628400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:30626600-30628600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:30626600-30628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:30626600-30629400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:30626600-30629800	Enhancers	Ovary	ovary
32	chr2:30626800-30627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:30626800-30627800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:30626800-30627800	Enhancers	Brain Anterior Caudate	brain
35	chr2:30626800-30627800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:30626800-30628000	Enhancers	HSMM	muscle
37	chr2:30626800-30628200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:30626800-30628200	Enhancers	Fetal Kidney	kidney
39	chr2:30626800-30628600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:30626800-30628800	Enhancers	Fetal Thymus	thymus
41	chr2:30627000-30627600	Enhancers	Brain Angular Gyrus	brain
42	chr2:30627000-30627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:30627000-30627800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:30627000-30627800	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:30627000-30627800	Enhancers	Brain Substantia Nigra	brain
46	chr2:30627000-30627800	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:30627000-30627800	Enhancers	Lung	lung
48	chr2:30627000-30627800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:30627000-30628000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:30627000-30628200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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