Variant report

Variant	rs2567983
Chromosome Location	chr12:121691679-121691680
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	chr12:121691598..121693749-chr12:121732696..121735280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1169716	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169719	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169723	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169724	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169810	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1186053	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630178	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1647255	1.00[AMR][1000 genomes]
rs1653587	1.00[YRI][hapmap]
rs1653588	0.83[YRI][hapmap]
rs1653589	1.00[YRI][hapmap]
rs1653590	1.00[YRI][hapmap]
rs1653593	1.00[YRI][hapmap]
rs1653599	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	1.00[AMR][1000 genomes]
rs1796418	1.00[AMR][1000 genomes]
rs1975123	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208281	1.00[AMR][1000 genomes]
rs208285	1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs208297	1.00[AMR][1000 genomes]
rs2116500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567982	1.00[YRI][hapmap]
rs2567998	1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686365	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686366	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686381	1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	1.00[AMR][1000 genomes]
rs2948125	1.00[AMR][1000 genomes]
rs3861796	1.00[AMR][1000 genomes]
rs512239	1.00[AMR][1000 genomes]
rs566496	1.00[AMR][1000 genomes]
rs584133	1.00[AMR][1000 genomes]
rs657647	1.00[AMR][1000 genomes]
rs672632	1.00[AMR][1000 genomes]
rs680700	1.00[AMR][1000 genomes]
rs682104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
5	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
9	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
11	chr12:121679400-121699000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:121679600-121713000	Strong transcription	Liver	Liver
16	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
17	chr12:121679800-121694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:121681200-121693400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:121681200-121693800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:121681200-121706400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:121681600-121694000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121682200-121695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:121684600-121696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:121684800-121693000	Strong transcription	Brain Hippocampus Middle	brain
39	chr12:121684800-121693400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:121684800-121693800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:121684800-121693800	Strong transcription	Left Ventricle	heart
42	chr12:121684800-121694600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr12:121684800-121694600	Strong transcription	Dnd41	blood
44	chr12:121684800-121694800	Strong transcription	A549	lung
45	chr12:121684800-121695000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:121684800-121699800	Strong transcription	Ovary	ovary
47	chr12:121684800-121704200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:121684800-121711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:121685000-121692800	Strong transcription	HSMMtube	muscle
50	chr12:121685000-121693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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