Variant report

Variant	rs11748792
Chromosome Location	chr5:179981557-179981558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179919689..179923000-chr5:179977820..179981821,3	K562	blood:

Variant related genes	Relation type
ENSG00000113300	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11249715	0.91[EUR][1000 genomes]
rs11249724	0.96[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11738060	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11740213	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740953	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11741030	0.92[EUR][1000 genomes]
rs11742350	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11742375	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11743486	0.84[TSI][hapmap]
rs11744382	0.91[EUR][1000 genomes]
rs11744428	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11744582	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11745477	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11745688	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11746130	0.82[EUR][1000 genomes]
rs11748724	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11750477	0.90[EUR][1000 genomes]
rs11750835	0.80[EUR][1000 genomes]
rs11949203	1.00[CEU][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11956078	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11957507	0.91[EUR][1000 genomes]
rs11960298	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12109328	0.92[EUR][1000 genomes]
rs12110046	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12719870	0.90[EUR][1000 genomes]
rs13156947	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13171439	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13171609	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13171921	0.92[EUR][1000 genomes]
rs13174480	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13179742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13181735	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13182919	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13183429	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13187624	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17630549	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17698422	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35076338	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35197594	0.92[EUR][1000 genomes]
rs35490561	0.91[EUR][1000 genomes]
rs56005965	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56039468	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60034484	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62405525	0.93[EUR][1000 genomes]
rs62405531	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62405532	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62405547	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs872365	0.81[GIH][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	18 gene(s)	inside rSNPs	diseases
10	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748792	MXD3	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950200-179984400	Weak transcription	NHDF-Ad	bronchial
2	chr5:179950200-179992000	Weak transcription	Right Ventricle	heart
3	chr5:179950400-179992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:179951000-179991800	Weak transcription	Small Intestine	intestine
6	chr5:179959800-179991600	Weak transcription	HMEC	breast
7	chr5:179960000-180000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:179960200-179982200	Weak transcription	HSMMtube	muscle
9	chr5:179960200-179991600	Weak transcription	Esophagus	oesophagus
10	chr5:179960200-179998200	Weak transcription	Spleen	Spleen
11	chr5:179960400-179991600	Weak transcription	Gastric	stomach
12	chr5:179961200-179992600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179961400-179991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:179961600-179991800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:179961800-179982000	Weak transcription	NHLF	lung
16	chr5:179962200-179991800	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:179962600-179982200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:179964000-179992600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:179966800-179987400	Strong transcription	Dnd41	blood
20	chr5:179967600-179982200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:179967600-179991800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:179969200-179985000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:179969600-179991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:179970000-179992200	Weak transcription	HSMM	muscle
25	chr5:179970800-180006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:179971600-179992000	Weak transcription	HUVEC	blood vessel
27	chr5:179972000-179988600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:179973800-180005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:179974400-180005800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:179975000-180005800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:179975200-179983400	Strong transcription	Primary T cells from cord blood	blood
32	chr5:179975200-179983800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:179975200-179983800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:179975600-179985200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:179975600-179992000	Weak transcription	Psoas Muscle	Psoas
36	chr5:179975600-180004600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:179976200-179983200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:179976200-179998200	Weak transcription	Fetal Heart	heart
39	chr5:179976200-180007200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:179976400-179981800	Weak transcription	Stomach Mucosa	stomach
41	chr5:179976400-179983600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:179976600-179983600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:179976600-179988600	Weak transcription	Pancreas	Pancrea
44	chr5:179976800-179982400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:179976800-179982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:179976800-179983000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:179976800-179983000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:179976800-179983400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:179976800-179983400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:179976800-179983400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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