Variant report

Variant	rs597362
Chromosome Location	chr1:76608532-76608533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs167050	1.00[JPT][hapmap]
rs172334	1.00[JPT][hapmap]
rs2152388	0.81[CEU][hapmap]
rs289682	1.00[JPT][hapmap]
rs289683	1.00[JPT][hapmap]
rs289698	1.00[JPT][hapmap]
rs289699	1.00[JPT][hapmap]
rs289700	1.00[JPT][hapmap]
rs289701	1.00[JPT][hapmap]
rs2992502	1.00[JPT][hapmap]
rs2992503	1.00[JPT][hapmap]
rs3011994	1.00[JPT][hapmap]
rs3011995	1.00[JPT][hapmap]
rs387214	1.00[JPT][hapmap]
rs389899	1.00[JPT][hapmap]
rs418644	1.00[JPT][hapmap]
rs423152	1.00[JPT][hapmap]
rs622212	1.00[JPT][hapmap]
rs643289	1.00[JPT][hapmap]
rs681280	1.00[JPT][hapmap]
rs860154	1.00[JPT][hapmap]
rs915402	1.00[JPT][hapmap]
rs915403	1.00[JPT][hapmap]
rs915404	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
3	chr1:76592600-76610800	Weak transcription	Fetal Kidney	kidney
4	chr1:76594600-76615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:76598600-76609800	Weak transcription	Fetal Stomach	stomach
6	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:76604800-76609200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:76605000-76608800	Enhancers	Brain Substantia Nigra	brain
9	chr1:76606200-76608800	Weak transcription	Fetal Brain Male	brain
10	chr1:76606200-76613400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
13	chr1:76606800-76608600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:76606800-76608800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:76607200-76609600	Weak transcription	Stomach Mucosa	stomach
16	chr1:76607600-76608600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:76607600-76608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:76607600-76616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:76607800-76608800	Weak transcription	Adipose Nuclei	Adipose
20	chr1:76607800-76609000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:76608000-76608800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:76608000-76609200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:76608000-76610000	Enhancers	Right Atrium	heart
24	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:76608200-76608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:76608200-76609000	Weak transcription	Aorta	Aorta
27	chr1:76608200-76609000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:76608200-76609600	Enhancers	Fetal Heart	heart
29	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:76608400-76608600	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:76608400-76608600	Enhancers	Pancreas	Pancrea
33	chr1:76608400-76608600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:76608400-76608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:76608400-76608800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:76608400-76609000	Weak transcription	Fetal Lung	lung
37	chr1:76608400-76609400	Weak transcription	Lung	lung
38	chr1:76608400-76613200	Weak transcription	Brain Inferior Temporal Lobe	brain

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