Variant report

Variant	rs4653985
Chromosome Location	chr1:224330485-224330486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10737430	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10737435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10737437	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10753448	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10753453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10753455	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10799483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10799486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10916326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10916328	0.82[AFR][1000 genomes]
rs10916351	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10916388	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804140	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586888	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1602706	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1810344	0.91[AFR][1000 genomes]
rs1891738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2048994	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2172359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404847	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2896984	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2896986	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4353057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653565	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4653955	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653987	0.92[AFR][1000 genomes]
rs58090997	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59819476	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61144016	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61347348	1.00[EUR][1000 genomes]
rs6426108	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6426112	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6426135	0.89[AFR][1000 genomes]
rs6426144	0.80[AFR][1000 genomes]
rs6426162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657160	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6659249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6668856	1.00[EUR][1000 genomes]
rs6668862	1.00[EUR][1000 genomes]
rs6671784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679683	1.00[EUR][1000 genomes]
rs6687331	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696409	0.81[AFR][1000 genomes]
rs6702019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122446	1.00[EUR][1000 genomes]
rs73124453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126416	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526301	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs937155	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs969008	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs969009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224314400-224333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
4	chr1:224315800-224331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:224316400-224331200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:224317600-224333400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224317800-224334000	Strong transcription	Fetal Intestine Large	intestine
9	chr1:224318000-224330600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:224318000-224331200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:224318000-224332000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:224318200-224333400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:224318400-224331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:224319200-224334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224319200-224335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:224319800-224331200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224320200-224344800	Weak transcription	Gastric	stomach
18	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
20	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
21	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
23	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
26	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:224320800-224339000	Weak transcription	A549	lung
28	chr1:224320800-224343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:224321000-224337200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:224321000-224338400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:224321000-224343200	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:224321000-224343400	Weak transcription	Fetal Brain Male	brain
36	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:224321000-224344800	Weak transcription	NHLF	lung
38	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
40	chr1:224321600-224330800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:224322000-224333400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:224322000-224345400	Weak transcription	HMEC	breast
43	chr1:224322400-224336200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:224322400-224337600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:224322800-224331400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:224323000-224335400	Strong transcription	Fetal Intestine Small	intestine
48	chr1:224323000-224337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:224323000-224337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:224323000-224341000	Weak transcription	NH-A	brain

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