Variant report

Variant	rs34942552
Chromosome Location	chr5:96052850-96052851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96038517..96040700-chr5:96049207..96053168,5	K562	blood:
2	chr5:96049970..96053832-chr5:96077718..96080469,3	K562	blood:

Variant related genes	Relation type
ENSG00000249180	Chromatin interaction
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10447215	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10515244	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11738135	0.99[EUR][1000 genomes]
rs11739280	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11744642	0.89[AMR][1000 genomes]
rs11745122	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750399	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11750400	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11750510	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12188168	0.98[EUR][1000 genomes]
rs1559085	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17082200	0.99[EUR][1000 genomes]
rs17086588	0.98[EUR][1000 genomes]
rs17400685	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17400741	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17479052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55695458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56116814	0.98[EUR][1000 genomes]
rs56122780	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56257788	0.99[EUR][1000 genomes]
rs6864233	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72772090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772091	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72772092	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72772095	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72773919	1.00[AFR][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

No data

Chromatin state (count:107 , 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	chr5:96049600-96053400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:96049600-96053400	Enhancers	Liver	Liver
21	chr5:96049600-96054800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:96049800-96054800	Enhancers	K562	blood
23	chr5:96049800-96058400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:96050200-96053400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr5:96050200-96053600	Enhancers	Small Intestine	intestine
26	chr5:96050200-96053800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:96050400-96053200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:96050400-96053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:96050800-96053000	Weak transcription	Primary B cells from cord blood	blood
30	chr5:96050800-96053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:96050800-96053200	Weak transcription	Gastric	stomach
32	chr5:96050800-96053400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:96050800-96057200	Weak transcription	Ovary	ovary
34	chr5:96051000-96053000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:96051000-96053000	Enhancers	Primary T cells from cord blood	blood
36	chr5:96051000-96053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:96051000-96053800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:96051000-96053800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:96051000-96054000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:96051000-96054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:96051000-96054400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:96051000-96056800	Weak transcription	NH-A	brain
43	chr5:96051000-96056800	Weak transcription	NHDF-Ad	bronchial
44	chr5:96051000-96057000	Weak transcription	HSMM	muscle
45	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:96051200-96054800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:96051200-96055600	Weak transcription	NHLF	lung
50	chr5:96051200-96057000	Weak transcription	Muscle Satellite Cultured Cells	--

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