Variant report

Variant	rs73150385
Chromosome Location	chr5:96241116-96241117
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	chr5:96239497..96241968-chr5:96254714..96256341,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs60561288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60878093	1.00[AMR][1000 genomes]
rs73135403	1.00[AMR][1000 genomes]
rs73152130	1.00[AMR][1000 genomes]
rs73152143	1.00[AMR][1000 genomes]
rs73152144	1.00[AMR][1000 genomes]
rs73152145	1.00[AMR][1000 genomes]
rs73152146	1.00[AMR][1000 genomes]
rs73152153	1.00[AMR][1000 genomes]
rs73152158	0.83[AMR][1000 genomes]
rs73152163	1.00[AMR][1000 genomes]
rs7715183	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic 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 target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96213400-96243800	Weak transcription	HepG2	liver
2	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
3	chr5:96217600-96241600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
6	chr5:96218600-96259600	Weak transcription	HMEC	breast
7	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
8	chr5:96221800-96242200	Strong transcription	Dnd41	blood
9	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:96222400-96242600	Strong transcription	Fetal Thymus	thymus
11	chr5:96222400-96247200	Weak transcription	Psoas Muscle	Psoas
12	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
13	chr5:96225200-96244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:96225600-96245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:96225600-96266400	Weak transcription	Gastric	stomach
16	chr5:96226200-96244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:96229200-96245400	Weak transcription	HSMMtube	muscle
18	chr5:96229600-96245000	Weak transcription	NH-A	brain
19	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
20	chr5:96229800-96241600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:96229800-96256800	Weak transcription	NHEK	skin
22	chr5:96229800-96256800	Weak transcription	Osteobl	bone
23	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
25	chr5:96231800-96245000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:96232800-96242000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:96233200-96241800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:96233200-96242200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:96233200-96242600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:96233200-96244400	Weak transcription	HUVEC	blood vessel
34	chr5:96233600-96242600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:96233600-96246000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:96233600-96247600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:96233800-96242400	Strong transcription	Primary B cells from cord blood	blood
38	chr5:96233800-96256000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:96234000-96242400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:96234200-96255600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:96235400-96241600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:96236000-96244400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:96236200-96242000	Weak transcription	Small Intestine	intestine
44	chr5:96236600-96242200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:96237400-96241400	Weak transcription	Fetal Intestine Small	intestine
46	chr5:96237400-96241400	Weak transcription	Fetal Stomach	stomach
47	chr5:96237400-96245200	Weak transcription	Spleen	Spleen
48	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:96237600-96242800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:96237600-96244800	Weak transcription	Lung	lung

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