Variant report

Variant	rs579971
Chromosome Location	chr6:13403181-13403182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13401093..13403901-chr6:13573991..13576576,2	MCF-7	breast:
2	chr6:13398336..13400389-chr6:13402109..13404070,2	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34562580	0.97[AFR][1000 genomes]
rs492192	1.00[AFR][1000 genomes]
rs494971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548259	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13396000-13404400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:13396200-13407000	Weak transcription	Gastric	stomach
4	chr6:13396400-13404400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:13396600-13405800	Weak transcription	HepG2	liver
6	chr6:13396800-13404400	Weak transcription	NHLF	lung
7	chr6:13397000-13404600	Weak transcription	Aorta	Aorta
8	chr6:13398000-13404400	Weak transcription	Esophagus	oesophagus
9	chr6:13398000-13404600	Weak transcription	Small Intestine	intestine
10	chr6:13398000-13406000	Weak transcription	Lung	lung
11	chr6:13398200-13406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:13398400-13407400	Weak transcription	Placenta	Placenta
13	chr6:13398600-13406000	Weak transcription	Primary B cells from cord blood	blood
14	chr6:13399000-13404400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:13399000-13404400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:13399000-13404600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:13399000-13404800	Weak transcription	Spleen	Spleen
18	chr6:13399200-13403600	Weak transcription	Hela-S3	cervix
19	chr6:13399200-13404000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:13399200-13404000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:13399200-13404400	Weak transcription	Adipose Nuclei	Adipose
22	chr6:13399200-13404400	Weak transcription	Psoas Muscle	Psoas
23	chr6:13399200-13404400	Weak transcription	A549	lung
24	chr6:13399200-13404600	Weak transcription	HSMMtube	muscle
25	chr6:13399200-13406800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:13399400-13404400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:13399400-13404400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:13399400-13404400	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:13399400-13404400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:13399400-13404400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:13399400-13404400	Weak transcription	NHEK	skin
32	chr6:13399400-13404600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:13399400-13405800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:13399800-13404400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:13400000-13403200	Weak transcription	NH-A	brain
36	chr6:13400000-13404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:13400600-13404600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:13401000-13406000	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:13401200-13403600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13401200-13404400	Weak transcription	Right Ventricle	heart
41	chr6:13401200-13404400	Weak transcription	K562	blood
42	chr6:13401400-13404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:13401400-13404400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:13401400-13404400	Weak transcription	HMEC	breast
45	chr6:13401600-13403600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:13401600-13403800	Weak transcription	HUVEC	blood vessel
47	chr6:13401600-13404400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:13401600-13404400	Weak transcription	Left Ventricle	heart
49	chr6:13401600-13404400	Weak transcription	Right Atrium	heart
50	chr6:13401600-13407000	Weak transcription	GM12878-XiMat	blood

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