Variant report

Variant	rs73588427
Chromosome Location	chr6:143263914-143263915
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	chr6:143263499..143265397-chr6:143292673..143294273,2	K562	blood:
2	chr6:143261291..143263976-chr6:143267791..143270142,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59123279	1.00[AMR][1000 genomes]
rs73588423	0.83[AMR][1000 genomes]
rs7766704	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768273	0.83[AMR][1000 genomes]
rs9484678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143248600-143265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:143249400-143264600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:143256200-143265000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:143256200-143265000	Weak transcription	Aorta	Aorta
5	chr6:143256600-143264600	Weak transcription	Small Intestine	intestine
6	chr6:143256600-143265000	Weak transcription	Esophagus	oesophagus
7	chr6:143256600-143265000	Weak transcription	Lung	lung
8	chr6:143256800-143265600	Weak transcription	Spleen	Spleen
9	chr6:143257000-143264000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:143257200-143265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:143257800-143264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:143259000-143264200	Enhancers	Brain Hippocampus Middle	brain
13	chr6:143259600-143265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:143260000-143264200	Weak transcription	Fetal Lung	lung
15	chr6:143260000-143264200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:143260200-143264200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:143260400-143265000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:143260600-143264200	Weak transcription	Brain Anterior Caudate	brain
19	chr6:143260600-143264800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:143261000-143264200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:143261400-143264400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:143261400-143264600	Enhancers	Brain Angular Gyrus	brain
23	chr6:143261400-143265000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:143261600-143264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:143261600-143264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:143261600-143264600	Enhancers	NHEK	skin
27	chr6:143261600-143264800	Enhancers	NHLF	lung
28	chr6:143261800-143265000	Enhancers	Brain Substantia Nigra	brain
29	chr6:143262000-143264000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:143262000-143264000	Weak transcription	Liver	Liver
31	chr6:143262000-143264200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:143262000-143264600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:143262000-143264600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:143262000-143264800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:143262000-143265000	Weak transcription	Left Ventricle	heart
36	chr6:143262000-143265000	Weak transcription	Pancreas	Pancrea
37	chr6:143262200-143264400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:143262200-143264600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:143262200-143264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:143262200-143264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:143262400-143264000	Weak transcription	Fetal Thymus	thymus
42	chr6:143262400-143264200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr6:143262400-143264200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:143262400-143264200	Weak transcription	Psoas Muscle	Psoas
45	chr6:143262400-143264600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:143262400-143264600	Weak transcription	Right Ventricle	heart
47	chr6:143262400-143264800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:143262600-143264000	Weak transcription	NH-A	brain
49	chr6:143262600-143264200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:143262600-143264600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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