Variant report

Variant	rs829596
Chromosome Location	chr2:30639352-30639353
allele	G/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:

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

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

rs_ID	r²[population]
rs1252655	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs12714306	0.88[EUR][1000 genomes]
rs13430418	0.83[EUR][1000 genomes]
rs711237	0.88[EUR][1000 genomes]
rs711240	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829593	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829599	1.00[ASN][1000 genomes]
rs829601	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829603	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs864910	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.88[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine
6	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
7	chr2:30633800-30644000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:30633800-30644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:30634000-30639600	Weak transcription	Aorta	Aorta
10	chr2:30634000-30639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:30634800-30644000	Weak transcription	Thymus	Thymus
13	chr2:30635200-30643800	Weak transcription	Fetal Thymus	thymus
14	chr2:30636000-30639800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:30636200-30639600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:30636200-30639800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:30636200-30639800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:30636200-30639800	Weak transcription	HSMMtube	muscle
19	chr2:30636400-30639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:30636400-30639800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30636400-30644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:30636400-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:30636400-30644400	Weak transcription	Gastric	stomach
24	chr2:30636600-30639600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:30636600-30639600	Weak transcription	Right Atrium	heart
26	chr2:30636600-30639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:30636800-30639800	Weak transcription	Placenta	Placenta
28	chr2:30636800-30644400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:30637000-30639600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:30637000-30640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:30637200-30640000	Weak transcription	Fetal Stomach	stomach
32	chr2:30637200-30644000	Weak transcription	Right Ventricle	heart
33	chr2:30637400-30639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:30637400-30644200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:30637400-30644600	Weak transcription	Fetal Brain Male	brain
36	chr2:30637600-30639800	Weak transcription	Fetal Kidney	kidney
37	chr2:30638000-30639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:30638000-30639600	Weak transcription	Fetal Heart	heart
39	chr2:30638000-30639600	Weak transcription	NHLF	lung
40	chr2:30638800-30639400	Weak transcription	NHDF-Ad	bronchial
41	chr2:30639000-30640800	Enhancers	Ovary	ovary
42	chr2:30639200-30639400	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:30639200-30640400	Enhancers	Fetal Lung	lung
44	chr2:30639200-30640400	Enhancers	Left Ventricle	heart
45	chr2:30639200-30640600	Enhancers	Fetal Muscle Leg	muscle
46	chr2:30639200-30640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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