Variant report

Variant	rs2273596
Chromosome Location	chr14:67981870-67981871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:
3	chr14:67981445..67983281-chr15:99192294..99193975,2	MCF-7	breast:
4	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140443	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10133618	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10134444	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10143518	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158675	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158676	0.80[AMR][1000 genomes]
rs11158677	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11621977	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627207	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12878949	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12878981	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12879556	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12887115	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1555397	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555398	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555399	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1980614	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899206	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902477	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140327	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140470	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7144333	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7144624	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154258	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155830	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155911	0.80[AMR][1000 genomes]
rs7156144	0.80[AMR][1000 genomes]
rs7160654	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7160944	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161368	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011307	0.81[ASN][1000 genomes]
rs8019176	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8019974	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription 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 miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3357417	chr14:67980624-67983572	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67979800-67982600	Enhancers	Fetal Brain Male	brain
2	chr14:67980600-67982600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:67980800-67982400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:67980800-67982600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:67980800-67982600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:67981000-67982000	Active TSS	Primary hematopoietic stem cells	blood
7	chr14:67981000-67982000	Active TSS	Thymus	Thymus
8	chr14:67981000-67982400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:67981000-67982400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:67981000-67982400	Active TSS	Fetal Intestine Large	intestine
11	chr14:67981000-67982600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:67981000-67982600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:67981000-67982600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:67981000-67982600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:67981000-67982600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:67981000-67982600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:67981200-67982200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:67981200-67982200	Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:67981200-67982200	Active TSS	Esophagus	oesophagus
20	chr14:67981200-67982200	Active TSS	Psoas Muscle	Psoas
21	chr14:67981200-67982400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:67981200-67982400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:67981200-67982400	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr14:67981200-67982400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:67981200-67982400	Active TSS	Colon Smooth Muscle	Colon
26	chr14:67981200-67982400	Active TSS	Ovary	ovary
27	chr14:67981200-67982400	Active TSS	Right Atrium	heart
28	chr14:67981200-67982400	Active TSS	HSMM	muscle
29	chr14:67981200-67982400	Active TSS	NHDF-Ad	bronchial
30	chr14:67981200-67982400	Active TSS	Osteobl	bone
31	chr14:67981200-67982600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr14:67981200-67982600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:67981400-67982000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:67981400-67982200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr14:67981400-67982200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:67981400-67982200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr14:67981400-67982200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:67981400-67982200	Active TSS	Brain Hippocampus Middle	brain
39	chr14:67981400-67982200	Active TSS	Pancreas	Pancrea
40	chr14:67981400-67982200	Active TSS	Right Ventricle	heart
41	chr14:67981400-67982200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr14:67981400-67982200	Active TSS	Stomach Mucosa	stomach
43	chr14:67981400-67982200	Active TSS	Stomach Smooth Muscle	stomach
44	chr14:67981400-67982200	Active TSS	Spleen	Spleen
45	chr14:67981400-67982200	Active TSS	HSMMtube	muscle
46	chr14:67981400-67982400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:67981400-67982400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:67981400-67982400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:67981400-67982400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr14:67981400-67982400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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