Variant report

Variant	rs73339225
Chromosome Location	chr5:126361470-126361471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126351866..126355437-chr5:126358417..126361637,3	K562	blood:
2	chr5:126332731..126335455-chr5:126360068..126362849,3	K562	blood:
3	chr5:126337289..126339518-chr5:126359619..126361646,2	K562	blood:
4	chr5:126357130..126358639-chr5:126360520..126362218,2	K562	blood:
5	chr5:126351866..126355719-chr5:126358417..126361637,4	K562	blood:
6	chr5:126317060..126319514-chr5:126359068..126361559,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs56676434	0.83[AMR][1000 genomes]
rs56765813	0.83[AMR][1000 genomes]
rs57826420	1.00[AMR][1000 genomes]
rs58148331	1.00[AMR][1000 genomes]
rs58223491	1.00[AMR][1000 genomes]
rs58369492	1.00[AMR][1000 genomes]
rs58412027	1.00[AMR][1000 genomes]
rs59296009	0.83[AMR][1000 genomes]
rs60037929	1.00[AMR][1000 genomes]
rs60564596	0.83[AMR][1000 genomes]
rs61270363	1.00[AMR][1000 genomes]
rs61396259	1.00[AMR][1000 genomes]
rs61443321	0.86[AFR][1000 genomes]
rs6860157	0.83[AFR][1000 genomes]
rs6865595	1.00[AMR][1000 genomes]
rs6868192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868955	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6880088	1.00[AMR][1000 genomes]
rs6880409	1.00[AMR][1000 genomes]
rs73335436	1.00[AMR][1000 genomes]
rs73335454	1.00[AMR][1000 genomes]
rs73335458	1.00[AMR][1000 genomes]
rs73335489	1.00[AMR][1000 genomes]
rs73335496	1.00[AMR][1000 genomes]
rs73337212	1.00[AMR][1000 genomes]
rs73337215	1.00[AMR][1000 genomes]
rs73337227	1.00[AMR][1000 genomes]
rs73337239	1.00[AMR][1000 genomes]
rs73337244	1.00[AMR][1000 genomes]
rs73337246	1.00[AMR][1000 genomes]
rs73337260	1.00[AMR][1000 genomes]
rs73337261	1.00[AMR][1000 genomes]
rs73337269	1.00[AMR][1000 genomes]
rs73337280	1.00[AMR][1000 genomes]
rs73337285	1.00[AMR][1000 genomes]
rs73337289	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337292	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337293	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337295	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339203	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339210	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339241	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339298	0.83[AMR][1000 genomes]
rs73339301	0.83[AMR][1000 genomes]
rs73341206	0.83[AMR][1000 genomes]
rs73341218	0.83[AMR][1000 genomes]
rs73342910	0.83[AMR][1000 genomes]
rs73342912	0.83[AMR][1000 genomes]
rs73342931	0.83[AMR][1000 genomes]
rs73342938	0.83[AMR][1000 genomes]
rs73342940	0.83[AMR][1000 genomes]
rs7709283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716932	1.00[AMR][1000 genomes]
rs7717574	1.00[AMR][1000 genomes]
rs7722202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729101	0.92[AFR][1000 genomes];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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126334400-126363000	Weak transcription	Ovary	ovary
2	chr5:126345600-126362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:126347800-126362800	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:126347800-126365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:126349200-126364400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:126350200-126362800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:126351800-126363400	Weak transcription	HUVEC	blood vessel
8	chr5:126351800-126365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:126352000-126364200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:126355600-126363600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:126356000-126362800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:126356000-126364400	Weak transcription	GM12878-XiMat	blood
13	chr5:126357800-126362400	Enhancers	K562	blood
14	chr5:126358600-126362000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:126358600-126362800	Weak transcription	Right Ventricle	heart
16	chr5:126359000-126361800	Weak transcription	HepG2	liver
17	chr5:126360000-126362200	Enhancers	Adipose Nuclei	Adipose
18	chr5:126360000-126362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:126360000-126364400	Weak transcription	Small Intestine	intestine
20	chr5:126360200-126362400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:126360200-126362800	Weak transcription	Psoas Muscle	Psoas
22	chr5:126360200-126363000	Weak transcription	Left Ventricle	heart
23	chr5:126360200-126364200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:126360200-126364400	Weak transcription	Right Atrium	heart
25	chr5:126360200-126364400	Weak transcription	NH-A	brain
26	chr5:126360200-126364600	Weak transcription	Spleen	Spleen
27	chr5:126360400-126362200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:126360400-126364400	Weak transcription	Brain Substantia Nigra	brain
29	chr5:126360800-126362600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:126361000-126361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:126361000-126364400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:126361000-126364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:126361200-126361800	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:126361200-126361800	Enhancers	Brain Hippocampus Middle	brain
35	chr5:126361200-126362000	Enhancers	HSMM	muscle
36	chr5:126361200-126362200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:126361200-126362200	Enhancers	HSMMtube	muscle
38	chr5:126361200-126362400	Enhancers	Osteobl	bone
39	chr5:126361200-126363000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:126361200-126364400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:126361400-126361600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr5:126361400-126361600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:126361400-126361800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:126361400-126361800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:126361400-126362000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:126361400-126362800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:126361400-126362800	Enhancers	Brain Anterior Caudate	brain
48	chr5:126361400-126363400	Enhancers	Fetal Heart	heart
49	chr5:126361400-126364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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