Variant report

Variant	rs6965583
Chromosome Location	chr7:21942120-21942121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1174947	1.00[AMR][1000 genomes]
rs1624416	1.00[AMR][1000 genomes]
rs1730935	1.00[AMR][1000 genomes]
rs4077528	1.00[AMR][1000 genomes]
rs72658841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683093	1.00[AMR][1000 genomes]
rs7808371	0.90[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6965583	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21924400-21945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21926600-21942600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:21928000-21942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:21931000-21942400	Weak transcription	Fetal Kidney	kidney
5	chr7:21932600-21951000	Weak transcription	HSMM	muscle
6	chr7:21933000-21963200	Weak transcription	A549	lung
7	chr7:21934000-21950400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:21934200-21951600	Weak transcription	Fetal Brain Male	brain
9	chr7:21935200-21942200	Weak transcription	HMEC	breast
10	chr7:21936400-21942400	Weak transcription	NH-A	brain
11	chr7:21936600-21956400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:21936600-21956600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:21936800-21945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:21936800-21945200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:21937000-21942200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:21937000-21952200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:21937000-21956400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:21937200-21956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:21937400-21950800	Weak transcription	Right Atrium	heart
20	chr7:21937400-21956000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:21937600-21942400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:21937600-21952000	Weak transcription	Psoas Muscle	Psoas
23	chr7:21937600-21952800	Strong transcription	Thymus	Thymus
24	chr7:21937600-21956200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:21937600-21956400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:21937800-21947800	Strong transcription	NHEK	skin
27	chr7:21937800-21950200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:21937800-21950600	Strong transcription	Fetal Stomach	stomach
29	chr7:21937800-21954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:21937800-21956000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:21937800-21956200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:21938000-21942200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:21938000-21942200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:21938000-21942400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:21938000-21949600	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:21938000-21955000	Weak transcription	Stomach Mucosa	stomach
37	chr7:21938000-21956200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr7:21938200-21949200	Strong transcription	Hela-S3	cervix
39	chr7:21938200-21950000	Weak transcription	Small Intestine	intestine
40	chr7:21938400-21945400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:21938400-21948600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr7:21938400-21949000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:21938400-21950200	Strong transcription	Ovary	ovary
44	chr7:21938600-21942600	Weak transcription	Right Ventricle	heart
45	chr7:21938600-21942600	Weak transcription	NHLF	lung
46	chr7:21938600-21943400	Weak transcription	Placenta	Placenta
47	chr7:21938600-21945200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:21938600-21947200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:21938600-21948800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:21938600-21950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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