Variant report

Variant	rs11743369
Chromosome Location	chr5:112441704-112441705
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:112441350-112441751	PFSK-1	brain:	n/a	n/a
2	REST	chr5:112441378-112441853	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr5:112426233-112442949	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr5:112440714-112442423	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112433359..112435186-chr5:112441396..112444395,2	K562	blood:
2	chr5:112428215..112429903-chr5:112440936..112443304,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10040400	0.89[ASN][1000 genomes]
rs10045658	0.81[EUR][1000 genomes]
rs10063834	0.81[EUR][1000 genomes]
rs10067901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074318	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10478110	0.90[ASN][1000 genomes]
rs11241191	0.90[ASN][1000 genomes]
rs11241192	0.90[ASN][1000 genomes]
rs11241193	0.92[ASN][1000 genomes]
rs11953203	0.90[ASN][1000 genomes]
rs12188482	0.92[ASN][1000 genomes]
rs12517185	0.90[ASN][1000 genomes]
rs12517187	0.90[ASN][1000 genomes]
rs12523053	0.88[ASN][1000 genomes]
rs13156718	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13173830	0.95[EUR][1000 genomes]
rs13174483	0.92[ASN][1000 genomes]
rs13179421	0.89[ASN][1000 genomes]
rs13183638	0.92[ASN][1000 genomes]
rs13184187	0.92[ASN][1000 genomes]
rs28645351	0.81[EUR][1000 genomes]
rs36041392	0.92[ASN][1000 genomes]
rs3884576	0.92[ASN][1000 genomes]
rs3890775	0.83[EUR][1000 genomes]
rs3890776	0.83[EUR][1000 genomes]
rs3922563	0.89[ASN][1000 genomes]
rs3922583	0.89[ASN][1000 genomes]
rs4078253	0.87[ASN][1000 genomes]
rs4078254	0.87[ASN][1000 genomes]
rs4235793	0.88[ASN][1000 genomes]
rs4262097	0.87[ASN][1000 genomes]
rs4705542	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4705543	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4705544	0.87[ASN][1000 genomes]
rs4705545	0.88[ASN][1000 genomes]
rs4705780	0.86[ASN][1000 genomes]
rs4705787	0.88[ASN][1000 genomes]
rs4705788	0.88[ASN][1000 genomes]
rs62374710	0.92[ASN][1000 genomes]
rs6594680	0.81[EUR][1000 genomes]
rs6594683	0.87[ASN][1000 genomes]
rs6859963	0.86[ASN][1000 genomes]
rs6869399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874220	0.81[EUR][1000 genomes]
rs6874314	0.81[EUR][1000 genomes]
rs6874595	0.81[EUR][1000 genomes]
rs7700271	0.90[ASN][1000 genomes]
rs7704382	0.90[ASN][1000 genomes]
rs7707142	0.87[ASN][1000 genomes]
rs7708475	0.81[EUR][1000 genomes]
rs7713290	0.81[EUR][1000 genomes]
rs7713336	0.81[EUR][1000 genomes]
rs7731180	0.91[ASN][1000 genomes]
rs9326877	0.90[ASN][1000 genomes]
rs9326878	0.90[ASN][1000 genomes]
rs9326879	0.81[ASN][1000 genomes]
rs9885385	0.90[ASN][1000 genomes]

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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer 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	1 gene(s)	inside rSNPs	diseases
3	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112424400-112448000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112426200-112445000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:112426800-112450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:112426800-112450600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:112426800-112450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
11	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
12	chr5:112427200-112448200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:112427600-112442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:112427600-112443200	Weak transcription	Brain Substantia Nigra	brain
15	chr5:112428600-112445000	Weak transcription	Placenta	Placenta
16	chr5:112431000-112442600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:112432200-112443200	Weak transcription	Lung	lung
19	chr5:112432200-112450200	Weak transcription	Spleen	Spleen
20	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea
21	chr5:112433800-112443800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:112436000-112442400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:112437600-112445800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:112437800-112454400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:112438000-112444400	Weak transcription	HMEC	breast
27	chr5:112438000-112450600	Weak transcription	Aorta	Aorta
28	chr5:112438000-112454200	Weak transcription	Psoas Muscle	Psoas
29	chr5:112438200-112444800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:112438200-112450000	Weak transcription	Adipose Nuclei	Adipose
31	chr5:112438200-112450200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:112438200-112452800	Weak transcription	Brain Anterior Caudate	brain
33	chr5:112438400-112443000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:112438400-112443000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112439600-112454600	Weak transcription	Esophagus	oesophagus
36	chr5:112439800-112452600	Weak transcription	Fetal Lung	lung
37	chr5:112440000-112443400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:112440000-112445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:112440000-112450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:112440200-112442400	Weak transcription	Liver	Liver
41	chr5:112440200-112445800	Weak transcription	Ovary	ovary
42	chr5:112440200-112446600	Weak transcription	Right Ventricle	heart
43	chr5:112440200-112447800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112440200-112447800	Weak transcription	Right Atrium	heart
45	chr5:112440200-112448000	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:112440200-112450000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:112440200-112450000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:112440200-112450000	Weak transcription	Fetal Stomach	stomach
49	chr5:112440200-112454200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:112440400-112445800	Weak transcription	Fetal Heart	heart

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