Variant report

Variant	rs2483330
Chromosome Location	chr1:112952964-112952965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112937041..112940524-chr1:112952763..112957185,4	MCF-7	breast:
2	chr1:112951394..112954161-chr1:112958063..112960913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1175631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175634	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1177814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1777610	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1936046	0.83[AFR][1000 genomes];1.00[AMR][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
3	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
6	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
7	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:112941200-112955000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:112941200-112955000	Weak transcription	Fetal Kidney	kidney
10	chr1:112941400-112954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
14	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
15	chr1:112942600-112954800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:112942600-112955400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
18	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
19	chr1:112944800-112959000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:112946800-112959000	Weak transcription	GM12878-XiMat	blood
22	chr1:112946800-112960800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:112947000-112954400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:112947000-112954600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:112947000-112956800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:112947200-112956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:112947200-112958200	Weak transcription	Right Ventricle	heart
29	chr1:112947200-112959000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:112947200-112959200	Weak transcription	Ovary	ovary
31	chr1:112947200-112961800	Weak transcription	A549	lung
32	chr1:112947200-112961800	Weak transcription	HepG2	liver
33	chr1:112947200-112971200	Weak transcription	Aorta	Aorta
34	chr1:112947200-112981000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:112947400-112953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:112947400-112954400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:112947400-112954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:112947400-112954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:112947400-112954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:112947400-112955600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:112947400-112965600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:112947600-112954400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:112947600-112954600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:112947600-112954600	Weak transcription	NHEK	skin
45	chr1:112947600-112955200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:112947600-112955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:112947800-112954600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:112948000-112954400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:112948000-112958600	Weak transcription	HMEC	breast
50	chr1:112948200-112955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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