Variant report

Variant	rs72831810
Chromosome Location	chr2:113979364-113979365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113979230-113979447	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113967701..113970551-chr2:113977130..113979448,2	K562	blood:
2	chr2:113978488..113981632-chr2:113983864..113986982,3	K562	blood:
3	chr2:113973621..113980487-chr2:113991287..113996231,8	K562	blood:
4	chr2:113973502..113975289-chr2:113978788..113980308,2	K562	blood:
5	chr2:113965870..113969424-chr2:113978380..113981725,3	MCF-7	breast:
6	chr2:113978254..113980033-chr2:113981611..113983261,2	MCF-7	breast:

No data

Variant related genes	Relation type
PAX8	TF binding region
ENSG00000125618	Chromatin interaction
ENSG00000189223	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13405033	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13431315	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35836064	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45449699	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66775912	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67776659	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67802835	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72831838	1.00[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113957400-113982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:113970600-113982600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:113970800-113983000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:113972200-113982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:113973800-113979400	Enhancers	Fetal Intestine Large	intestine
6	chr2:113974000-113980000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:113974600-113979600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:113975400-113980000	Enhancers	Stomach Mucosa	stomach
9	chr2:113975600-113983600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:113975800-113980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:113975800-113982600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:113975800-113983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:113975800-113983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:113976000-113980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113976400-113982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113976600-113980000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:113976600-113983200	Weak transcription	Fetal Lung	lung
18	chr2:113977400-113985600	Weak transcription	Gastric	stomach
19	chr2:113977600-113982600	Weak transcription	NH-A	brain
20	chr2:113977600-113983000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:113977800-113982600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:113977800-113982600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:113977800-113983600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:113978000-113982600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:113978000-113982600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:113978000-113983000	Weak transcription	Osteobl	bone
27	chr2:113978000-113983200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:113978000-113983200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:113978000-113986400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:113978000-113987600	Weak transcription	Esophagus	oesophagus
31	chr2:113978200-113979800	Weak transcription	Spleen	Spleen
32	chr2:113978200-113983000	Weak transcription	Fetal Stomach	stomach
33	chr2:113978200-113983200	Weak transcription	Fetal Intestine Small	intestine
34	chr2:113978200-113987200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:113978200-113991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:113978400-113981200	Enhancers	HepG2	liver
37	chr2:113978400-113983000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:113978400-113983600	Weak transcription	Lung	lung
39	chr2:113978400-113983600	Weak transcription	Pancreas	Pancrea
40	chr2:113978600-113980000	Enhancers	K562	blood
41	chr2:113978600-113980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:113978600-113983000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:113978600-113984600	Genic enhancers	Fetal Kidney	kidney
44	chr2:113978800-113982600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:113978800-113986200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:113979000-113979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:113979000-113980200	Enhancers	A549	lung
48	chr2:113979000-113982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:113979000-113982600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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