Variant report

Variant	rs7550048
Chromosome Location	chr1:184421306-184421307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911595	1.00[MEX][hapmap]
rs12057927	1.00[MEX][hapmap]
rs12068223	0.97[AFR][1000 genomes]
rs1890654	0.82[ASW][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
3	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:184413200-184422000	Weak transcription	Fetal Stomach	stomach
10	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
11	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:184417600-184422400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:184417800-184423800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:184419400-184426000	Weak transcription	HMEC	breast
16	chr1:184419600-184421600	Weak transcription	Psoas Muscle	Psoas
17	chr1:184419600-184423600	Weak transcription	Left Ventricle	heart
18	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
20	chr1:184419600-184426800	Weak transcription	NHEK	skin
21	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
23	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:184419800-184421400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:184420200-184421400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:184420400-184421800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:184420800-184422000	Weak transcription	Fetal Lung	lung
29	chr1:184420800-184422800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:184420800-184423000	Enhancers	Small Intestine	intestine
31	chr1:184421200-184421400	Enhancers	Colon Smooth Muscle	Colon
32	chr1:184421200-184421800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:184421200-184423200	Enhancers	Stomach Mucosa	stomach
34	chr1:184421200-184423800	Enhancers	Rectal Mucosa Donor 31	rectum

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