Variant report

Variant	rs16823189
Chromosome Location	chr1:184428168-184428169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184427992..184429921-chr1:184441519..184443422,2	MCF-7	breast:
2	chr1:184353248..184356115-chr1:184426699..184428547,2	MCF-7	breast:
3	chr1:184361196..184362821-chr1:184427399..184430230,2	MCF-7	breast:
4	chr1:184426693..184429213-chr1:184435487..184437284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10494579	1.00[EUR][1000 genomes]
rs10911542	1.00[EUR][1000 genomes]
rs10911543	1.00[EUR][1000 genomes]
rs1111087	1.00[EUR][1000 genomes]
rs12066684	1.00[EUR][1000 genomes]
rs12072264	1.00[EUR][1000 genomes]
rs12076686	1.00[EUR][1000 genomes]
rs12076687	1.00[EUR][1000 genomes]
rs12095050	1.00[EUR][1000 genomes]
rs13328702	1.00[EUR][1000 genomes]
rs13375618	1.00[EUR][1000 genomes]
rs16822757	1.00[EUR][1000 genomes]
rs16822764	1.00[EUR][1000 genomes]
rs16822766	1.00[EUR][1000 genomes]
rs16822783	1.00[EUR][1000 genomes]
rs16822793	1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1930289	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs4354502	1.00[EUR][1000 genomes]
rs4543760	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56797986	1.00[EUR][1000 genomes]
rs58307611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59737381	1.00[EUR][1000 genomes]
rs59949779	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs6667688	1.00[EUR][1000 genomes]
rs6668105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669875	1.00[EUR][1000 genomes]
rs6670740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73059524	1.00[EUR][1000 genomes]
rs73059529	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs74131644	1.00[EUR][1000 genomes]
rs74131649	1.00[EUR][1000 genomes]
rs74131651	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	1.00[EUR][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
8	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:184424000-184430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:184424000-184436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:184424400-184428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:184424400-184428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:184424400-184429000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:184424400-184430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:184424800-184428600	Enhancers	Fetal Heart	heart
19	chr1:184424800-184429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:184425400-184428800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:184425600-184428800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:184425600-184430000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:184425600-184430000	Weak transcription	Ovary	ovary
25	chr1:184425600-184430000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:184425800-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:184426000-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:184426400-184428600	Enhancers	Fetal Lung	lung
29	chr1:184426600-184428200	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:184426600-184428800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:184426600-184429200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:184427000-184431400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:184427200-184428400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:184427200-184428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:184427200-184429200	Enhancers	Colon Smooth Muscle	Colon
36	chr1:184427200-184430600	Weak transcription	NHEK	skin
37	chr1:184427400-184428600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:184427400-184428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:184427400-184428800	Weak transcription	Left Ventricle	heart
40	chr1:184427400-184428800	Weak transcription	Psoas Muscle	Psoas
41	chr1:184427400-184428800	Weak transcription	Right Atrium	heart
42	chr1:184427400-184428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:184427400-184429000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:184427400-184430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:184427400-184430200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:184427400-184430200	Weak transcription	Fetal Stomach	stomach
47	chr1:184427400-184430200	Weak transcription	Pancreas	Pancrea
48	chr1:184427400-184431200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:184427400-184431200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:184427400-184443800	Weak transcription	Esophagus	oesophagus

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