Variant report

Variant	rs6994286
Chromosome Location	chr8:124675387-124675388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124642600..124645867-chr8:124673711..124676775,3	MCF-7	breast:
2	chr8:124674081..124675971-chr8:124683411..124685005,2	MCF-7	breast:
3	chr8:124574966..124577834-chr8:124674515..124676204,2	MCF-7	breast:
4	chr8:124574004..124576603-chr8:124675208..124677787,2	MCF-7	breast:
5	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
6	chr8:124674966..124677669-chr8:124704647..124706640,2	MCF-7	breast:
7	chr8:124548466..124550592-chr8:124675218..124677028,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10094484	0.94[EUR][1000 genomes]
rs10109736	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10429327	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956142	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11783892	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784149	0.87[EUR][1000 genomes]
rs12550643	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4260879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4455809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871405	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55802621	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470171	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7386679	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835500	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
3	chr8:124670400-124678400	Weak transcription	Right Atrium	heart
4	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
5	chr8:124671200-124675800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:124671400-124676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:124671400-124681000	Weak transcription	HSMM	muscle
9	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:124673400-124677800	Enhancers	HMEC	breast
11	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:124673600-124676400	Enhancers	Psoas Muscle	Psoas
13	chr8:124673600-124677000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:124673600-124677000	Enhancers	NHEK	skin
15	chr8:124673600-124677200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:124674000-124677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:124674400-124678200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:124674400-124680200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:124675000-124676200	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:124675000-124677600	Weak transcription	Aorta	Aorta
21	chr8:124675000-124680400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:124675000-124680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:124675200-124675600	Weak transcription	Esophagus	oesophagus
24	chr8:124675200-124676000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:124675200-124680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:124675200-124680600	Weak transcription	Osteobl	bone
27	chr8:124675200-124680800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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