Variant report

Variant	rs61990550
Chromosome Location	chr14:71289093-71289094
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	chr14:71288709..71289703-chr6:3118761..3119431,2	NB4	blood:
2	chr14:71288544..71291419-chr14:71373851..71375362,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137274	Chromatin interaction
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10083428	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483834	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847356	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548584	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108554	0.81[EUR][1000 genomes]
rs17176985	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177014	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766512	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766551	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766661	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859460	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859461	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023954	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742847	0.88[EUR][1000 genomes]
rs4902857	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902858	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902859	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57284652	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843652	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59858521	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60533515	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61988426	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988427	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990472	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990476	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990481	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990518	0.91[EUR][1000 genomes]
rs61990519	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990520	0.81[EUR][1000 genomes]
rs61990521	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990523	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990527	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990551	0.82[EUR][1000 genomes]
rs6573982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573983	0.82[EUR][1000 genomes]
rs7141204	0.83[EUR][1000 genomes]
rs7150427	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151024	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757570	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006715	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018972	0.81[EUR][1000 genomes]
rs8019053	0.82[EUR][1000 genomes]
rs8020803	0.82[EUR][1000 genomes]
rs8022621	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr14:71287800-71289800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:71288000-71289600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:71288000-71289800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:71288000-71290000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr14:71288200-71289200	Active TSS	Aorta	Aorta
6	chr14:71288200-71289200	Active TSS	GM12878-XiMat	blood
7	chr14:71288200-71289400	Active TSS	HSMMtube	muscle
8	chr14:71288200-71289600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:71288200-71289600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:71288200-71289600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:71288200-71289600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:71288200-71289600	Active TSS	Duodenum Mucosa	Duodenum
13	chr14:71288200-71289600	Active TSS	Ovary	ovary
14	chr14:71288200-71289600	Active TSS	NH-A	brain
15	chr14:71288200-71289600	Active TSS	NHDF-Ad	bronchial
16	chr14:71288200-71289800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:71288200-71289800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:71288200-71289800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:71288200-71289800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr14:71288200-71289800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:71288200-71289800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
22	chr14:71288200-71289800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:71288200-71289800	Active TSS	Psoas Muscle	Psoas
24	chr14:71288200-71289800	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:71288200-71289800	Active TSS	Right Atrium	heart
26	chr14:71288200-71290000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:71288400-71289200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:71288400-71289200	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr14:71288400-71289200	Active TSS	Liver	Liver
30	chr14:71288400-71289400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:71288400-71289400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr14:71288400-71289400	Active TSS	Esophagus	oesophagus
33	chr14:71288400-71289400	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr14:71288400-71289400	Active TSS	Gastric	stomach
35	chr14:71288400-71289600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:71288400-71289600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:71288400-71289600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:71288400-71289600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:71288400-71289600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:71288400-71289600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:71288400-71289600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr14:71288400-71289600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:71288400-71289600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr14:71288400-71289600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:71288400-71289600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:71288400-71289600	Active TSS	Brain Substantia Nigra	brain
47	chr14:71288400-71289600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:71288400-71289600	Active TSS	Fetal Intestine Large	intestine
49	chr14:71288400-71289600	Active TSS	Fetal Intestine Small	intestine
50	chr14:71288400-71289600	Active TSS	Rectal Mucosa Donor 29	rectum

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