Variant report

Variant	rs1196292
Chromosome Location	chr2:182849733-182849734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1153743	1.00[YRI][hapmap]
rs1196053	1.00[YRI][hapmap]
rs1196168	1.00[YRI][hapmap]
rs1196186	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3440551	chr2:182832201-182874730	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182848600-182850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:182849200-182849800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:182849200-182850400	Enhancers	NHLF	lung
6	chr2:182849200-182850600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:182849400-182850800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:182849400-182850800	Enhancers	Colon Smooth Muscle	Colon
9	chr2:182849600-182849800	Flanking Active TSS	Fetal Heart	heart
10	chr2:182849600-182849800	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:182849600-182849800	Enhancers	NHDF-Ad	bronchial
12	chr2:182849600-182850000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:182849600-182850000	Enhancers	Brain Substantia Nigra	brain
14	chr2:182849600-182850000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:182849600-182850200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:182849600-182850200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:182849600-182850200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:182849600-182850200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:182849600-182850200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:182849600-182850200	Enhancers	Stomach Mucosa	stomach
21	chr2:182849600-182850400	Enhancers	Brain Anterior Caudate	brain
22	chr2:182849600-182850400	Enhancers	Fetal Lung	lung
23	chr2:182849600-182850600	Enhancers	Brain Angular Gyrus	brain
24	chr2:182849600-182850600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:182849600-182850600	Enhancers	Gastric	stomach
26	chr2:182849600-182850800	Enhancers	Pancreatic Islets	Pancreatic Islet

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