Variant report

Variant	rs9970984
Chromosome Location	chr1:184507874-184507875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:184507756-184508298	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
C1orf21	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1007224	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10737253	0.83[ASN][1000 genomes]
rs10797971	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10797972	0.94[ASN][1000 genomes]
rs10797974	0.83[EUR][1000 genomes]
rs10797977	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10911606	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11588922	0.92[ASN][1000 genomes]
rs12125349	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12127674	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1339563	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339564	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339565	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1339566	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1339567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1416752	0.83[EUR][1000 genomes]
rs1569842	0.83[ASN][1000 genomes]
rs1884200	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2001270	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2038307	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2038308	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2144294	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2180073	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2180077	0.83[ASN][1000 genomes]
rs2207528	0.83[ASN][1000 genomes]
rs2378888	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2890014	0.85[EUR][1000 genomes]
rs2890015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651208	0.83[ASN][1000 genomes]
rs4651210	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4651211	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4651216	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4651217	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651218	0.85[EUR][1000 genomes]
rs4651219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55729410	0.83[ASN][1000 genomes]
rs6661707	0.80[ASN][1000 genomes]
rs6666704	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7517518	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7533466	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7544240	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9970990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184501800-184510200	Weak transcription	NHEK	skin
2	chr1:184502400-184517000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:184502400-184520200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:184502600-184527200	Weak transcription	Fetal Brain Female	brain
5	chr1:184503200-184514600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:184503200-184516400	Weak transcription	Fetal Brain Male	brain
7	chr1:184503400-184515800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:184503400-184520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:184504200-184508600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:184504200-184522600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:184504400-184508200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr1:184504400-184508800	Weak transcription	Psoas Muscle	Psoas
13	chr1:184504400-184510600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:184504800-184508000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:184505400-184509200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:184505400-184511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:184505600-184508800	Weak transcription	Ovary	ovary
18	chr1:184505600-184511600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:184505600-184511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:184505800-184508800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:184505800-184510600	Weak transcription	Right Atrium	heart
22	chr1:184505800-184510800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:184505800-184511200	Weak transcription	Left Ventricle	heart
24	chr1:184505800-184511200	Weak transcription	Right Ventricle	heart
25	chr1:184505800-184511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:184505800-184511400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:184505800-184513000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:184505800-184514600	Weak transcription	NHLF	lung
29	chr1:184505800-184515000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:184505800-184515800	Weak transcription	Lung	lung
31	chr1:184505800-184516000	Weak transcription	Pancreas	Pancrea
32	chr1:184505800-184518200	Weak transcription	Gastric	stomach
33	chr1:184505800-184524000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:184505800-184530800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
36	chr1:184506000-184508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:184506200-184520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:184506800-184510200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:184507000-184510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:184507200-184508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:184507200-184511000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:184507600-184508400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr1:184507800-184508400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:184507800-184508600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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