Variant report

Variant	rs829603
Chromosome Location	chr2:30635961-30635962
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30632868..30636418-chr2:30882716..30885684,3	K562	blood:
2	chr2:30600425..30602028-chr2:30634955..30636791,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1252655	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12714306	0.85[EUR][1000 genomes]
rs13430418	0.81[EUR][1000 genomes]
rs711237	0.85[EUR][1000 genomes]
rs711240	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829593	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829596	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829599	0.95[ASN][1000 genomes]
rs829601	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs864910	0.92[CEU][hapmap];0.80[JPT][hapmap];0.85[EUR][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	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
9	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
10	chr2:30630200-30638000	Enhancers	NHLF	lung
11	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:30631600-30636200	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:30631600-30636400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:30631600-30637000	Enhancers	Colon Smooth Muscle	Colon
15	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine
16	chr2:30632200-30636400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:30632200-30636600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
19	chr2:30632600-30636000	Weak transcription	Placenta	Placenta
20	chr2:30632800-30636400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:30633600-30636800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:30633800-30638000	Enhancers	Fetal Heart	heart
23	chr2:30633800-30644000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:30633800-30644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:30634000-30636200	Weak transcription	Fetal Kidney	kidney
26	chr2:30634000-30636400	Weak transcription	Right Ventricle	heart
27	chr2:30634000-30639600	Weak transcription	Aorta	Aorta
28	chr2:30634000-30639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:30634600-30636200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:30634600-30636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:30634800-30636200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:30634800-30636600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:30634800-30636800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:30634800-30644000	Weak transcription	Thymus	Thymus
36	chr2:30635000-30637000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:30635000-30637400	Enhancers	Ovary	ovary
38	chr2:30635200-30636800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:30635200-30643800	Weak transcription	Fetal Thymus	thymus
40	chr2:30635400-30636000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:30635400-30636000	Enhancers	Adipose Nuclei	Adipose
42	chr2:30635400-30636200	Enhancers	HSMMtube	muscle
43	chr2:30635400-30636400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:30635400-30636400	Enhancers	Fetal Intestine Small	intestine
45	chr2:30635400-30636600	Enhancers	Right Atrium	heart
46	chr2:30635600-30636200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:30635600-30636200	Enhancers	Fetal Intestine Large	intestine
48	chr2:30635600-30637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:30635800-30636000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:30635800-30636200	Weak transcription	Left Ventricle	heart

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