Variant report

Variant	rs12188168
Chromosome Location	chr5:96040730-96040731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96028207..96031020-chr5:96040142..96041950,2	K562	blood:
2	chr5:96034121..96036027-chr5:96039934..96041502,2	K562	blood:

Variant related genes	Relation type
ENSG00000264129	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10447215	0.85[EUR][1000 genomes]
rs10515244	0.86[EUR][1000 genomes]
rs11738135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739280	0.86[EUR][1000 genomes]
rs11745122	0.85[EUR][1000 genomes]
rs11750399	0.86[EUR][1000 genomes]
rs11750400	0.86[EUR][1000 genomes]
rs11750510	1.00[EUR][1000 genomes]
rs1559085	0.86[EUR][1000 genomes]
rs17082200	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400685	0.85[EUR][1000 genomes]
rs17400741	0.85[EUR][1000 genomes]
rs17479052	0.85[EUR][1000 genomes]
rs2112277	1.00[ASN][1000 genomes]
rs34942552	0.98[EUR][1000 genomes]
rs4869305	1.00[ASN][1000 genomes]
rs55695458	0.99[EUR][1000 genomes]
rs56116814	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122780	0.85[EUR][1000 genomes]
rs56257788	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864233	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879175	1.00[ASN][1000 genomes]
rs72772090	0.99[EUR][1000 genomes]
rs72772091	1.00[EUR][1000 genomes]
rs72772092	1.00[EUR][1000 genomes]
rs72772095	0.98[EUR][1000 genomes]
rs73774355	1.00[ASN][1000 genomes]
rs7702304	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96038000-96040800	Active TSS	Psoas Muscle	Psoas
2	chr5:96038200-96041000	Active TSS	Right Ventricle	heart
3	chr5:96039200-96050600	Weak transcription	Gastric	stomach
4	chr5:96039200-96054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:96039200-96054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:96039200-96054400	Weak transcription	Spleen	Spleen
7	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:96039400-96043200	Weak transcription	Esophagus	oesophagus
9	chr5:96039400-96043200	Weak transcription	Lung	lung
10	chr5:96039400-96050200	Weak transcription	Aorta	Aorta
11	chr5:96039600-96046200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:96039800-96041400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:96039800-96042000	Weak transcription	HSMMtube	muscle
15	chr5:96039800-96048000	Weak transcription	Pancreas	Pancrea
16	chr5:96039800-96049600	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:96039800-96049800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:96040000-96040800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:96040000-96040800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:96040000-96041000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:96040000-96041200	Enhancers	Placenta	Placenta
22	chr5:96040000-96042000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:96040000-96042000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:96040000-96042000	Weak transcription	GM12878-XiMat	blood
25	chr5:96040000-96042000	Weak transcription	K562	blood
26	chr5:96040000-96042000	Weak transcription	NHDF-Ad	bronchial
27	chr5:96040000-96042200	Weak transcription	Left Ventricle	heart
28	chr5:96040000-96042200	Weak transcription	Small Intestine	intestine
29	chr5:96040000-96042200	Enhancers	NHEK	skin
30	chr5:96040000-96042200	Weak transcription	NHLF	lung
31	chr5:96040000-96043200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:96040000-96043400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:96040000-96043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:96040000-96043400	Weak transcription	Right Atrium	heart
35	chr5:96040000-96043400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:96040000-96044200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:96040000-96044200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:96040000-96044200	Weak transcription	Ovary	ovary
39	chr5:96040000-96044400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:96040000-96044400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:96040000-96044400	Weak transcription	A549	lung
42	chr5:96040000-96044400	Weak transcription	HSMM	muscle
43	chr5:96040000-96044600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:96040000-96044600	Weak transcription	NH-A	brain
45	chr5:96040000-96044800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:96040000-96046000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:96040000-96046600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:96040000-96047400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:96040000-96049600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:96040000-96049800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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