Variant report

Variant	rs11241493
Chromosome Location	chr5:118503962-118503963
allele	C/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	ARID3A	chr5:118503944-118504095	K562	blood:	n/a	n/a
2	GATA2	chr5:118503759-118504580	HUVEC	blood vessel:	n/a	chr5:118504166-118504175 chr5:118503942-118503958 chr5:118504293-118504302
3	FOXA1	chr5:118503779-118504110	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118503506..118505330-chr5:118525953..118528174,2	K562	blood:
2	chr5:118494371..118496864-chr5:118503410..118506409,2	K562	blood:

Variant related genes	Relation type
DMXL1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17442317	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs213434	1.00[JPT][hapmap]
rs299194	1.00[JPT][hapmap]
rs299202	1.00[JPT][hapmap]
rs299205	1.00[JPT][hapmap]
rs299206	1.00[JPT][hapmap]
rs299208	1.00[JPT][hapmap]
rs299209	1.00[JPT][hapmap]
rs34904684	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411110	1.00[JPT][hapmap]
rs9327091	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:118472800-118505000	Weak transcription	HepG2	liver
6	chr5:118473800-118505000	Weak transcription	A549	lung
7	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
8	chr5:118483000-118541400	Weak transcription	NHEK	skin
9	chr5:118484800-118506400	Weak transcription	Fetal Heart	heart
10	chr5:118485400-118506600	Weak transcription	HSMMtube	muscle
11	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
13	chr5:118485800-118515600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
16	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
18	chr5:118486200-118513000	Weak transcription	Brain Germinal Matrix	brain
19	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:118486400-118504400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:118486600-118515800	Weak transcription	Osteobl	bone
23	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
24	chr5:118490000-118505600	Weak transcription	Placenta	Placenta
25	chr5:118490200-118509600	Weak transcription	K562	blood
26	chr5:118490400-118512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:118490600-118515800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:118490800-118513800	Weak transcription	Brain Anterior Caudate	brain
29	chr5:118490800-118515400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:118490800-118526000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:118490800-118526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:118490800-118532000	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:118491000-118515400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:118491200-118532400	Weak transcription	Fetal Kidney	kidney
35	chr5:118491400-118507400	Weak transcription	Fetal Lung	lung
36	chr5:118491600-118508800	Weak transcription	Aorta	Aorta
37	chr5:118493400-118528000	Weak transcription	Fetal Brain Female	brain
38	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
39	chr5:118495400-118508800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:118495400-118510400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:118497000-118512600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:118497000-118514600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:118497200-118509800	Strong transcription	Liver	Liver
44	chr5:118497200-118532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:118497800-118504600	Weak transcription	Stomach Mucosa	stomach
46	chr5:118497800-118513600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:118497800-118513600	Weak transcription	Pancreas	Pancrea
48	chr5:118497800-118534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:118497800-118535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:118498000-118509600	Weak transcription	Fetal Muscle Trunk	muscle

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