Variant report

Variant	rs11743648
Chromosome Location	chr5:96054395-96054396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96050817..96052390-chr5:96054162..96057341,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10515243	0.82[YRI][hapmap]
rs10866771	0.90[ASN][1000 genomes]
rs11739478	0.90[ASN][1000 genomes]
rs13184900	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1421912	0.84[ASN][1000 genomes]
rs152006	0.87[ASN][1000 genomes]
rs26486	0.89[ASN][1000 genomes]
rs31247	0.89[ASN][1000 genomes]
rs34847574	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35015183	0.94[ASN][1000 genomes]
rs35959356	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4400148	0.83[ASN][1000 genomes]
rs4434401	0.91[ASN][1000 genomes]
rs4869148	0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs62364719	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62364722	0.83[AFR][1000 genomes]
rs6891870	0.85[ASN][1000 genomes]
rs71630748	0.83[AFR][1000 genomes]
rs7715982	0.85[ASN][1000 genomes]
rs7736193	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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
rs11743648	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96039200-96054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96039200-96054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:96039200-96054400	Weak transcription	Spleen	Spleen
4	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:96040000-96054400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:96040000-96054400	Weak transcription	Fetal Stomach	stomach
8	chr5:96041600-96054600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
10	chr5:96043600-96054400	Weak transcription	Esophagus	oesophagus
11	chr5:96045800-96056800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:96047400-96054800	Enhancers	Fetal Heart	heart
13	chr5:96047800-96055000	Enhancers	Fetal Intestine Large	intestine
14	chr5:96048000-96054400	Weak transcription	Brain Angular Gyrus	brain
15	chr5:96048400-96054400	Weak transcription	Lung	lung
16	chr5:96048600-96054800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:96049000-96054800	Enhancers	Stomach Mucosa	stomach
18	chr5:96049200-96054400	Enhancers	Fetal Intestine Small	intestine
19	chr5:96049600-96054800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:96049800-96054800	Enhancers	K562	blood
21	chr5:96049800-96058400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:96050800-96057200	Weak transcription	Ovary	ovary
23	chr5:96051000-96054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:96051000-96054400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:96051000-96056800	Weak transcription	NH-A	brain
26	chr5:96051000-96056800	Weak transcription	NHDF-Ad	bronchial
27	chr5:96051000-96057000	Weak transcription	HSMM	muscle
28	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:96051200-96054800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:96051200-96055600	Weak transcription	NHLF	lung
33	chr5:96051200-96057000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:96051400-96056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:96051400-96056800	Weak transcription	Osteobl	bone
37	chr5:96051400-96059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:96051600-96054400	Weak transcription	Brain Anterior Caudate	brain
39	chr5:96051600-96054400	Weak transcription	Colonic Mucosa	Colon
40	chr5:96051600-96055400	Weak transcription	Hela-S3	cervix
41	chr5:96051600-96056200	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:96051600-96056200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:96051600-96057000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:96051600-96057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:96051600-96057000	Weak transcription	Aorta	Aorta
46	chr5:96051600-96057000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:96051600-96057400	Weak transcription	Fetal Kidney	kidney
48	chr5:96051600-96057800	Enhancers	HMEC	breast
49	chr5:96051600-96065200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:96051600-96065400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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