Variant report

Variant	rs6757522
Chromosome Location	chr2:47114152-47114153
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47113152..47114933-chr20:49369552..49371918,2	MCF-7	breast:
2	chr2:47112637..47114168-chr2:47596564..47598772,2	K562	blood:

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13395263	1.00[AMR][1000 genomes]
rs28447616	1.00[AMR][1000 genomes]
rs28685737	1.00[AMR][1000 genomes]
rs41359846	1.00[AMR][1000 genomes]
rs60101351	1.00[AMR][1000 genomes]
rs6759105	1.00[AMR][1000 genomes]
rs72884790	1.00[AMR][1000 genomes]
rs72884794	1.00[AMR][1000 genomes]
rs72886604	1.00[AFR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
4	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
9	chr2:47109600-47116000	Weak transcription	Fetal Lung	lung
10	chr2:47109800-47114200	Weak transcription	HSMMtube	muscle
11	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:47110000-47114200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:47110200-47115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:47110200-47115800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:47110200-47115800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:47110200-47116000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:47110200-47116000	Weak transcription	HUVEC	blood vessel
18	chr2:47110400-47115200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:47110800-47115800	Weak transcription	Left Ventricle	heart
20	chr2:47111400-47114600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47112200-47116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47113000-47114600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:47113000-47115600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:47113000-47116600	Weak transcription	Right Atrium	heart
25	chr2:47113200-47114200	Weak transcription	A549	lung
26	chr2:47113200-47115800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:47113200-47115800	Weak transcription	Fetal Stomach	stomach
28	chr2:47113200-47116200	Enhancers	NH-A	brain
29	chr2:47113200-47116600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:47113200-47116600	Enhancers	Osteobl	bone
31	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
32	chr2:47113800-47114600	Enhancers	HSMM	muscle
33	chr2:47113800-47116200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:47114000-47114400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:47114000-47114600	Enhancers	Placenta	Placenta
36	chr2:47114000-47116200	Enhancers	NHLF	lung

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