Variant report

Variant	rs4845385
Chromosome Location	chr1:151846719-151846720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151845516..151847312-chr1:151866507..151868026,2	K562	blood:
2	chr1:151843870..151847170-chr1:151852619..151855658,3	K562	blood:
3	chr1:151836666..151838298-chr1:151846377..151848819,2	MCF-7	breast:
4	chr1:151834011..151835970-chr1:151846096..151847764,2	MCF-7	breast:
5	chr1:151842414..151844891-chr1:151846199..151848335,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10158030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038746	1.00[CHB][hapmap]
rs1038748	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1048910	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10749666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788814	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10788816	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10888448	0.83[AMR][1000 genomes]
rs10888449	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888450	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10888451	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10888453	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11204905	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11204911	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11204912	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11204923	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1352654	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1387834	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1387835	1.00[CHB][hapmap]
rs1490187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490190	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1490191	1.00[CHB][hapmap]
rs1552605	0.83[YRI][hapmap]
rs1552606	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1552607	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs1602245	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1602248	1.00[CHB][hapmap]
rs17583707	1.00[CHB][hapmap]
rs1844542	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1873310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873311	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1873312	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1967085	1.00[CHB][hapmap]
rs2054948	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2087549	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2130526	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2171917	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2338018	1.00[CHB][hapmap];0.80[YRI][hapmap]
rs2338200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2338203	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2338204	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2338210	0.84[AMR][1000 genomes]
rs2932563	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2932567	1.00[CHB][hapmap]
rs2932578	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2932592	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2999514	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2999527	1.00[CHB][hapmap]
rs2999529	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2999535	1.00[CHB][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap]
rs2999538	1.00[CHB][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007682	0.82[AMR][1000 genomes]
rs3007690	1.00[CHB][hapmap]
rs3007700	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs3007701	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs3007704	1.00[CHB][hapmap]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3748805	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3762427	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4551598	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845388	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4845393	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4845660	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845664	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845699	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587627	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6587628	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587629	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6587630	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6587641	1.00[CHB][hapmap]
rs6659029	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6662463	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6678664	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6685291	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6690443	0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6691350	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7529451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7532721	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7541498	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7544380	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7545863	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7552869	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902314	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs902315	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs902316	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs959945	1.00[CHB][hapmap]
rs9943225	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4845385	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151831000-151881400	Weak transcription	Ovary	ovary
3	chr1:151832000-151859600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:151834000-151849600	Weak transcription	Esophagus	oesophagus
5	chr1:151835600-151847600	Weak transcription	HSMMtube	muscle
6	chr1:151840600-151864600	Weak transcription	NH-A	brain
7	chr1:151840800-151847600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:151840800-151857800	Weak transcription	K562	blood
9	chr1:151841200-151847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:151841200-151859200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:151841200-151880800	Weak transcription	NHLF	lung
12	chr1:151841400-151860000	Weak transcription	Hela-S3	cervix
13	chr1:151841400-151860200	Weak transcription	Osteobl	bone
14	chr1:151841600-151864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:151843400-151859600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:151844000-151860000	Weak transcription	HSMM	muscle
17	chr1:151844000-151864600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:151844200-151859600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:151844200-151860400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:151844400-151849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:151844400-151857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:151844400-151866400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
24	chr1:151844600-151847400	Strong transcription	Fetal Intestine Small	intestine
25	chr1:151844600-151847400	Strong transcription	Fetal Stomach	stomach
26	chr1:151844600-151851600	Weak transcription	Fetal Brain Male	brain
27	chr1:151844600-151853800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:151844600-151863600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:151844600-151864200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:151844800-151848800	Weak transcription	HepG2	liver
31	chr1:151844800-151849600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:151844800-151853800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:151844800-151857800	Weak transcription	HMEC	breast
34	chr1:151844800-151863800	Weak transcription	Brain Substantia Nigra	brain
35	chr1:151844800-151864200	Weak transcription	Pancreas	Pancrea
36	chr1:151844800-151870800	Weak transcription	Gastric	stomach
37	chr1:151844800-151871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:151844800-151877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:151845200-151846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:151845200-151847600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:151845200-151863600	Weak transcription	Fetal Kidney	kidney
42	chr1:151845400-151846800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:151845400-151847000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:151845400-151847200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:151845400-151847600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:151845400-151847600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:151845400-151847800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:151845400-151871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:151845600-151847200	Strong transcription	Lung	lung
50	chr1:151845600-151847400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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