Variant report

Variant	rs6544975
Chromosome Location	chr2:47498140-47498141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
2	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
3	chr2:47496586..47498213-chr2:47499758..47501672,2	MCF-7	breast:
4	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
5	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
6	chr2:47393853..47395632-chr2:47496969..47499614,2	K562	blood:
7	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
8	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
9	chr2:47422552..47429870-chr2:47496148..47502457,12	MCF-7	breast:
10	chr2:47490578..47492989-chr2:47496160..47499559,3	K562	blood:
11	chr2:47497455..47500389-chr2:47501805..47505272,3	MCF-7	breast:
12	chr2:47397785..47406895-chr2:47495364..47504312,55	MCF-7	breast:
13	chr2:47497085..47500611-chr2:47536768..47542000,5	MCF-7	breast:
14	chr2:47447242..47450213-chr2:47497234..47499703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11680357	0.88[ASN][1000 genomes]
rs6544974	0.90[ASN][1000 genomes]
rs9309144	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47490400-47499200	Enhancers	Fetal Intestine Small	intestine
2	chr2:47491200-47499400	Enhancers	Fetal Intestine Large	intestine
3	chr2:47492000-47498800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:47492800-47499200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:47493200-47498600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:47493200-47499400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:47493200-47499400	Weak transcription	Fetal Brain Female	brain
8	chr2:47493400-47498600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:47493400-47499200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:47493400-47500400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47493600-47499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:47493800-47499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47494400-47498600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:47495000-47498800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:47495000-47499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:47496000-47499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:47496000-47499400	Enhancers	NHDF-Ad	bronchial
18	chr2:47496000-47502200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:47496400-47498400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:47496400-47498600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:47496400-47499000	Enhancers	HepG2	liver
22	chr2:47496400-47499200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:47496400-47499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:47496800-47498600	Weak transcription	Colonic Mucosa	Colon
25	chr2:47496800-47498600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:47496800-47498800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:47496800-47499000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:47496800-47499200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:47496800-47499200	Weak transcription	Liver	Liver
30	chr2:47496800-47499200	Weak transcription	HSMM	muscle
31	chr2:47496800-47499400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:47497000-47498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:47497000-47498600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:47497000-47498800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:47497000-47498800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:47497000-47498800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:47497000-47499000	Weak transcription	Brain Substantia Nigra	brain
38	chr2:47497000-47499000	Weak transcription	Spleen	Spleen
39	chr2:47497000-47499200	Weak transcription	Fetal Heart	heart
40	chr2:47497000-47499200	Enhancers	Hela-S3	cervix
41	chr2:47497000-47499200	Weak transcription	NH-A	brain
42	chr2:47497000-47499200	Weak transcription	Osteobl	bone
43	chr2:47497000-47499400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47497000-47499400	Weak transcription	Right Ventricle	heart
45	chr2:47497000-47499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:47497000-47501800	Weak transcription	HSMMtube	muscle
47	chr2:47497200-47498600	Weak transcription	Placenta	Placenta
48	chr2:47497200-47498600	Weak transcription	Small Intestine	intestine
49	chr2:47497200-47498800	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:47497200-47498800	Weak transcription	Lung	lung

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