Variant report

Variant	rs1122382
Chromosome Location	chr3:112950630-112950631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112929883..112933461-chr3:112947415..112950895,3	MCF-7	breast:
2	chr3:112950520..112952808-chr3:112954208..112956518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144857	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027550	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682477	0.82[EUR][1000 genomes]
rs61586075	0.82[EUR][1000 genomes]
rs7620307	0.82[EUR][1000 genomes]
rs775219	0.82[EUR][1000 genomes]
rs9288981	0.82[EUR][1000 genomes]
rs9874603	0.82[EUR][1000 genomes]
rs999366	0.82[EUR][1000 genomes]
rs999367	0.82[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr3:112931800-112950800	Weak transcription	Lung	lung
2	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
3	chr3:112934600-112950800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:112937000-112954800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:112937200-112953400	Weak transcription	Right Ventricle	heart
6	chr3:112940600-112953400	Weak transcription	Stomach Mucosa	stomach
7	chr3:112941800-112950800	Weak transcription	Pancreas	Pancrea
8	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
9	chr3:112946200-112951000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:112946400-112953400	Weak transcription	Gastric	stomach
11	chr3:112947000-112955600	Weak transcription	Fetal Intestine Small	intestine
12	chr3:112947600-112950800	Weak transcription	Left Ventricle	heart
13	chr3:112948400-112951000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:112948400-112951600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:112948400-112953400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:112948600-112951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:112949000-112952000	Enhancers	NH-A	brain
18	chr3:112949200-112953600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:112949600-112952000	Enhancers	NHDF-Ad	bronchial
20	chr3:112949800-112950800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:112949800-112951400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:112949800-112951600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:112949800-112954200	Enhancers	HMEC	breast
24	chr3:112949800-112954600	Enhancers	NHEK	skin
25	chr3:112950000-112951600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:112950000-112951600	Enhancers	Osteobl	bone
27	chr3:112950000-112952000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:112950000-112953400	Enhancers	Colon Smooth Muscle	Colon
29	chr3:112950000-112953800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:112950000-112953800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr3:112950200-112951000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112950200-112951400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:112950200-112951400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:112950200-112952000	Enhancers	HSMM	muscle
35	chr3:112950200-112952200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:112950200-112953400	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:112950200-112954200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:112950200-112954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:112950400-112951000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:112950400-112951200	Flanking Active TSS	A549	lung
41	chr3:112950400-112951400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:112950400-112951400	Enhancers	HSMMtube	muscle
43	chr3:112950400-112951600	Enhancers	NHLF	lung
44	chr3:112950400-112951800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:112950400-112951800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:112950400-112952600	Enhancers	Ovary	ovary
47	chr3:112950400-112953000	Enhancers	Fetal Brain Male	brain
48	chr3:112950400-112953200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:112950400-112953800	Genic enhancers	Fetal Stomach	stomach
50	chr3:112950400-112954000	Genic enhancers	Fetal Muscle Leg	muscle

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