Variant report

Variant	rs61980727
Chromosome Location	chr14:70080703-70080704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70078362..70080995-chr14:70181831..70184954,3	MCF-7	breast:
2	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
3	chr14:70078972..70081003-chr14:70168060..70169859,2	MCF-7	breast:
4	chr14:70080315..70081958-chr14:70085435..70087455,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11620826	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11623812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627867	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629212	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587433	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1275748	0.95[EUR][1000 genomes]
rs1275749	0.95[EUR][1000 genomes]
rs17107177	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957365	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275124	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784143	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784149	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3825736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899310	0.90[ASN][1000 genomes]
rs4902742	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980737	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61982060	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982061	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8010776	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8020026	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70077600-70081000	Active TSS	Esophagus	oesophagus
2	chr14:70078000-70081000	Active TSS	GM12878-XiMat	blood
3	chr14:70078800-70080800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr14:70078800-70080800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:70079000-70080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70079000-70080800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr14:70079000-70082800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:70079000-70083200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr14:70079200-70080800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr14:70079200-70080800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr14:70079200-70080800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:70079200-70080800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:70079200-70081000	Flanking Active TSS	Fetal Thymus	thymus
14	chr14:70079200-70083200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr14:70079200-70083400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr14:70079400-70080800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:70079400-70080800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr14:70079400-70081000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:70079400-70083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:70079600-70080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:70079600-70080800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:70079600-70080800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr14:70079600-70082200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:70079600-70082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70079600-70085600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:70079800-70080800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:70079800-70080800	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr14:70079800-70081000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:70079800-70082000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:70079800-70082000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:70079800-70082600	Enhancers	Pancreas	Pancrea
33	chr14:70079800-70084200	Weak transcription	Ovary	ovary
34	chr14:70080000-70080800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:70080000-70080800	Flanking Active TSS	HMEC	breast
36	chr14:70080000-70080800	Flanking Active TSS	K562	blood
37	chr14:70080000-70081000	Active TSS	Brain Anterior Caudate	brain
38	chr14:70080000-70082600	Enhancers	Stomach Mucosa	stomach
39	chr14:70080000-70082800	Enhancers	Spleen	Spleen
40	chr14:70080000-70084200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
42	chr14:70080200-70080800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:70080200-70081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:70080200-70081600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:70080200-70081600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:70080200-70082000	Weak transcription	HSMM	muscle
47	chr14:70080200-70082400	Enhancers	Fetal Muscle Leg	muscle
48	chr14:70080400-70080800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:70080400-70080800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:70080400-70080800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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