Variant report

Variant	rs9748751
Chromosome Location	chr18:9268955-9268956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1046483	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10502391	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11659948	0.86[ASN][1000 genomes]
rs12326829	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1443597	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1443598	0.86[ASN][1000 genomes]
rs16954886	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16954905	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16954914	0.86[ASN][1000 genomes]
rs17498752	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17498969	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17499116	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1899668	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2120316	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298548	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28520663	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28578690	0.89[AMR][1000 genomes]
rs28619483	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2864515	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213925	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3744822	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3744823	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4356535	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4449017	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4490062	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5011606	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56996721	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58350342	0.83[AMR][1000 genomes]
rs59018067	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59616258	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59633812	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60119987	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60143204	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60354371	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7229105	0.82[EUR][1000 genomes]
rs7235358	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935274	0.89[AMR][1000 genomes]
rs72937244	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72937245	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72937248	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72937250	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72937257	0.81[AMR][1000 genomes]
rs72937258	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937259	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937263	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937267	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937270	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937287	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937291	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937297	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937301	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937302	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939207	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939211	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939216	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939219	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939220	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939221	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939224	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939227	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939230	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939231	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939232	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939235	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72939239	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7506375	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7506561	0.82[EUR][1000 genomes]
rs8094979	0.94[AMR][1000 genomes]
rs8098544	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099583	0.86[ASN][1000 genomes]
rs9652921	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9748482	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9748485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv2201	chr18:9247631-9279825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9216000-9289600	Weak transcription	HMEC	breast
3	chr18:9232800-9273000	Weak transcription	Fetal Kidney	kidney
4	chr18:9234400-9280400	Weak transcription	Psoas Muscle	Psoas
5	chr18:9234600-9278000	Weak transcription	Brain Angular Gyrus	brain
6	chr18:9234800-9290000	Weak transcription	NHLF	lung
7	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:9235400-9270800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:9240600-9275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:9240800-9279800	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:9243600-9278000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:9243600-9283000	Weak transcription	Brain Substantia Nigra	brain
13	chr18:9245000-9271000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr18:9254800-9280000	Weak transcription	Hela-S3	cervix
15	chr18:9255000-9281400	Weak transcription	HUVEC	blood vessel
16	chr18:9255000-9282600	Weak transcription	A549	lung
17	chr18:9255200-9275600	Weak transcription	NH-A	brain
18	chr18:9257000-9277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:9258600-9279000	Weak transcription	Fetal Brain Male	brain
20	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
21	chr18:9261400-9283400	Weak transcription	Fetal Heart	heart
22	chr18:9262800-9276400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr18:9264400-9274200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:9264600-9281600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:9264800-9273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:9265000-9271800	Weak transcription	Primary B cells from cord blood	blood
27	chr18:9265000-9271800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr18:9265000-9273000	Weak transcription	HSMM	muscle
29	chr18:9265000-9273600	Weak transcription	Osteobl	bone
30	chr18:9265000-9275600	Weak transcription	Dnd41	blood
31	chr18:9265000-9275800	Weak transcription	GM12878-XiMat	blood
32	chr18:9265000-9276200	Weak transcription	NHDF-Ad	bronchial
33	chr18:9265000-9286000	Weak transcription	K562	blood
34	chr18:9265200-9271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:9265200-9271800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr18:9265200-9275800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:9265200-9277000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr18:9265200-9278600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:9265200-9281200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr18:9265200-9281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:9265200-9284200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr18:9265400-9273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr18:9265600-9270400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:9265600-9270400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr18:9265600-9270400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:9265600-9270400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:9265600-9270400	Weak transcription	Pancreas	Pancrea

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