Variant report

Variant	rs16823167
Chromosome Location	chr1:184419639-184419640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184410703..184412418-chr1:184418970..184420642,2	MCF-7	breast:
2	chr1:184418404..184421283-chr1:184528359..184530284,2	MCF-7	breast:
3	chr1:184414246..184415782-chr1:184418306..184420936,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58553309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58703459	1.00[AMR][1000 genomes]
rs6688083	1.00[AMR][1000 genomes]
rs74131660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131687	1.00[AMR][1000 genomes]
rs74134113	1.00[AMR][1000 genomes]
rs74134119	1.00[AMR][1000 genomes]

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:30 , 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	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
6	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:184413000-184420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:184413200-184422000	Weak transcription	Fetal Stomach	stomach
12	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
13	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:184417600-184422400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:184417800-184423800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:184418800-184420200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:184419000-184419800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:184419200-184421200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:184419400-184426000	Weak transcription	HMEC	breast
21	chr1:184419600-184420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:184419600-184421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:184419600-184421600	Weak transcription	Psoas Muscle	Psoas
24	chr1:184419600-184423600	Weak transcription	Left Ventricle	heart
25	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
27	chr1:184419600-184426800	Weak transcription	NHEK	skin
28	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
30	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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