Variant report

Variant	rs17041111
Chromosome Location	chr4:110893992-110893993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110888945..110892290-chr4:110892815..110895828,3	MCF-7	breast:
2	chr4:110888650..110890694-chr4:110892063..110894115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10003648	1.00[AMR][1000 genomes]
rs10028950	1.00[AMR][1000 genomes]
rs10029493	1.00[AMR][1000 genomes]
rs10029774	1.00[AMR][1000 genomes]
rs11568956	1.00[AMR][1000 genomes]
rs11568969	1.00[AMR][1000 genomes]
rs11568970	1.00[AMR][1000 genomes]
rs11568976	1.00[AMR][1000 genomes]
rs11568977	1.00[AMR][1000 genomes]
rs11568979	1.00[AMR][1000 genomes]
rs11569009	1.00[AMR][1000 genomes]
rs11569099	1.00[AMR][1000 genomes]
rs17041117	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28733095	1.00[AMR][1000 genomes]
rs57694253	1.00[AMR][1000 genomes]
rs58489427	1.00[AMR][1000 genomes]
rs6822980	1.00[AMR][1000 genomes]
rs6824759	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17041111	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
5	chr4:110889000-110894000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:110890200-110894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:110890200-110894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:110890400-110894200	Weak transcription	NHEK	skin
9	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:110891600-110895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:110891600-110896400	Weak transcription	Spleen	Spleen
13	chr4:110891800-110900000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:110892800-110894400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:110893000-110894400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:110893200-110894000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:110893200-110894200	Enhancers	HepG2	liver
18	chr4:110893200-110894400	Enhancers	HSMMtube	muscle
19	chr4:110893400-110894600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:110893600-110894000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:110893600-110894200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:110893600-110894400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:110893600-110894800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:110893600-110894800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:110893600-110895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:110893600-110895000	Enhancers	Fetal Intestine Small	intestine
27	chr4:110893800-110894200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:110893800-110894200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:110893800-110894200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:110893800-110894600	Enhancers	Fetal Muscle Leg	muscle
31	chr4:110893800-110895000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:110893800-110895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:110893800-110909600	Weak transcription	Fetal Heart	heart

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