Variant report

Variant	rs11952481
Chromosome Location	chr5:95131975-95131976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:
2	chr5:95123714..95126514-chr5:95130940..95133344,2	MCF-7	breast:
3	chr5:95066316..95069259-chr5:95130863..95133345,2	K562	blood:
4	chr5:95128573..95130479-chr5:95130654..95133499,2	K562	blood:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10476656	1.00[AMR][1000 genomes]
rs11959785	1.00[AMR][1000 genomes]
rs3184188	0.80[AFR][1000 genomes]
rs59723543	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735810	1.00[AMR][1000 genomes]
rs9314151	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:95115400-95137800	Weak transcription	Right Atrium	heart
4	chr5:95115400-95138600	Weak transcription	Gastric	stomach
5	chr5:95115400-95139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
7	chr5:95115600-95134000	Strong transcription	HSMM	muscle
8	chr5:95115800-95133800	Weak transcription	HUVEC	blood vessel
9	chr5:95117200-95133600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:95117200-95143000	Weak transcription	Primary B cells from cord blood	blood
11	chr5:95117200-95143200	Weak transcription	Primary T cells from cord blood	blood
12	chr5:95117200-95143400	Weak transcription	Thymus	Thymus
13	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:95119000-95133400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:95119400-95133400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95120200-95133200	Weak transcription	Fetal Kidney	kidney
17	chr5:95120800-95138600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:95120800-95138600	Weak transcription	Psoas Muscle	Psoas
19	chr5:95120800-95143400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:95121000-95135400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:95121000-95137600	Weak transcription	Fetal Thymus	thymus
22	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:95123000-95133400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95123000-95133400	Strong transcription	Osteobl	bone
25	chr5:95124400-95138600	Weak transcription	Right Ventricle	heart
26	chr5:95124400-95143800	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:95124600-95133200	Weak transcription	HepG2	liver
28	chr5:95124600-95134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:95124600-95139600	Weak transcription	Fetal Lung	lung
30	chr5:95124600-95143800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:95124600-95144000	Weak transcription	Brain Substantia Nigra	brain
32	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:95125600-95136800	Weak transcription	Small Intestine	intestine
35	chr5:95125600-95140800	Weak transcription	GM12878-XiMat	blood
36	chr5:95126400-95143600	Weak transcription	Dnd41	blood
37	chr5:95126800-95139000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
39	chr5:95128000-95136000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:95128000-95136800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:95128000-95143600	Weak transcription	Spleen	Spleen
42	chr5:95128000-95143800	Weak transcription	Lung	lung
43	chr5:95129600-95136600	Weak transcription	Pancreas	Pancrea
44	chr5:95129800-95132400	Weak transcription	NHLF	lung
45	chr5:95129800-95133200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:95129800-95134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:95129800-95136200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:95129800-95138800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:95129800-95140200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:95129800-95143600	Weak transcription	Primary hematopoietic stem cells	blood

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