Variant report

Variant	rs61443321
Chromosome Location	chr5:126360186-126360187
allele	A/G
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	chr5:126351866..126355719-chr5:126358417..126361637,4	K562	blood:
5	chr5:126317060..126319514-chr5:126359068..126361559,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57434625	1.00[AMR][1000 genomes]
rs61021974	1.00[AMR][1000 genomes]
rs61292941	1.00[AMR][1000 genomes]
rs6595748	1.00[AMR][1000 genomes]
rs6890333	1.00[AMR][1000 genomes]
rs73335432	1.00[AMR][1000 genomes]
rs73337224	1.00[AMR][1000 genomes]
rs73339218	0.83[AFR][1000 genomes]
rs73339225	0.86[AFR][1000 genomes]
rs73339266	1.00[AMR][1000 genomes]
rs73339276	1.00[AMR][1000 genomes]
rs73339287	1.00[AMR][1000 genomes]
rs73341204	1.00[AMR][1000 genomes]
rs7709283	0.86[AFR][1000 genomes]
rs7722202	0.86[AFR][1000 genomes]
rs7722206	0.86[AFR][1000 genomes]
rs9687587	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:34 , 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	chr5:126351400-126360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:126351800-126363400	Weak transcription	HUVEC	blood vessel
9	chr5:126351800-126365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:126352000-126361200	Weak transcription	HSMM	muscle
11	chr5:126352000-126364200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:126355600-126363600	Weak transcription	Primary B cells from cord blood	blood
13	chr5:126355800-126361200	Weak transcription	HSMMtube	muscle
14	chr5:126356000-126362800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:126356000-126364400	Weak transcription	GM12878-XiMat	blood
16	chr5:126357800-126362400	Enhancers	K562	blood
17	chr5:126358200-126361400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:126358600-126362000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:126358600-126362800	Weak transcription	Right Ventricle	heart
20	chr5:126359000-126361800	Weak transcription	HepG2	liver
21	chr5:126359600-126360200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:126359600-126360200	Enhancers	Psoas Muscle	Psoas
23	chr5:126359600-126360200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:126359600-126360200	Active TSS	Spleen	Spleen
25	chr5:126359800-126360400	Enhancers	Fetal Heart	heart
26	chr5:126360000-126360200	Enhancers	Left Ventricle	heart
27	chr5:126360000-126360200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:126360000-126360200	Enhancers	Right Atrium	heart
29	chr5:126360000-126360400	Enhancers	Brain Substantia Nigra	brain
30	chr5:126360000-126360800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:126360000-126361000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:126360000-126362200	Enhancers	Adipose Nuclei	Adipose
33	chr5:126360000-126362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:126360000-126364400	Weak transcription	Small Intestine	intestine

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