Variant report

Variant	rs4849174
Chromosome Location	chr2:113973467-113973468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113973127..113974813-chr2:113991728..113993751,2	MCF-7	breast:
2	chr2:113970718..113973548-chr2:113977522..113979126,2	MCF-7	breast:
3	chr2:113968914..113973967-chr2:113991743..113995400,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189223	Chromatin interaction
ENSG00000125618	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2019137	0.82[ASN][1000 genomes]
rs3748915	0.82[ASN][1000 genomes]
rs6751201	0.89[EUR][1000 genomes]
rs7572615	0.80[ASN][1000 genomes]
rs874898	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs895412	0.82[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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
5	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113957400-113982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:113958000-113975200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:113960600-113975200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:113960800-113974600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:113960800-113975000	Weak transcription	Liver	Liver
6	chr2:113962200-113974800	Weak transcription	GM12878-XiMat	blood
7	chr2:113962600-113974600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:113967600-113975200	Weak transcription	Gastric	stomach
9	chr2:113969400-113974800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:113969400-113975400	Weak transcription	Right Ventricle	heart
11	chr2:113969600-113974800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:113969600-113974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:113969800-113974600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:113969800-113974800	Weak transcription	Fetal Thymus	thymus
15	chr2:113970000-113974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:113970000-113974400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:113970000-113974400	Weak transcription	HSMMtube	muscle
18	chr2:113970000-113975000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:113970000-113975000	Weak transcription	Osteobl	bone
20	chr2:113970000-113975400	Weak transcription	Stomach Mucosa	stomach
21	chr2:113970200-113974600	Weak transcription	HSMM	muscle
22	chr2:113970400-113974600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:113970400-113974800	Weak transcription	Small Intestine	intestine
24	chr2:113970400-113975000	Weak transcription	Hela-S3	cervix
25	chr2:113970400-113975600	Weak transcription	NHLF	lung
26	chr2:113970600-113973800	Weak transcription	Fetal Intestine Large	intestine
27	chr2:113970600-113973800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:113970600-113973800	Weak transcription	Left Ventricle	heart
29	chr2:113970600-113974400	Weak transcription	NH-A	brain
30	chr2:113970600-113974600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:113970600-113974600	Weak transcription	Colonic Mucosa	Colon
32	chr2:113970600-113974600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:113970600-113974800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:113970600-113975200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:113970600-113975200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:113970600-113982600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:113970800-113974000	Weak transcription	Lung	lung
38	chr2:113970800-113974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:113970800-113974600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:113970800-113974600	Weak transcription	Pancreas	Pancrea
41	chr2:113970800-113974800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:113970800-113975000	Weak transcription	Right Atrium	heart
43	chr2:113970800-113975200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:113970800-113975400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:113970800-113975600	Weak transcription	NHDF-Ad	bronchial
46	chr2:113970800-113983000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:113971000-113974000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:113971000-113974800	Weak transcription	Fetal Heart	heart
49	chr2:113971000-113974800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:113971200-113974600	Weak transcription	Fetal Lung	lung

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