Variant report

Variant	rs61980729
Chromosome Location	chr14:70083440-70083441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70075659..70077569-chr14:70081813..70084609,2	K562	blood:
2	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
3	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
4	chr14:70081817..70084192-chr14:70088669..70091268,2	MCF-7	breast:
5	chr14:70082796..70084596-chr14:70115953..70118660,2	MCF-7	breast:
6	chr14:70082470..70084833-chr14:70167168..70169181,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10149246	0.81[ASN][1000 genomes]
rs1275742	0.90[ASN][1000 genomes]
rs1275745	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1275746	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1275817	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275823	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1295826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295827	0.83[ASN][1000 genomes]
rs17107161	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1743379	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1999722	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2210803	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2766462	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.83[ASN][1000 genomes]
rs34686932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902745	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55780993	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60716885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573900	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143960	0.87[ASN][1000 genomes]
rs7157093	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs945308	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945310	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945312	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079400-70083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:70079600-70085600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70079800-70084200	Weak transcription	Ovary	ovary
5	chr14:70080000-70084200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
7	chr14:70080400-70083800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:70080400-70084400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
10	chr14:70080600-70085400	Enhancers	Fetal Lung	lung
11	chr14:70080600-70085600	Weak transcription	Hela-S3	cervix
12	chr14:70080600-70088200	Enhancers	Liver	Liver
13	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
15	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:70081000-70083600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:70081200-70083800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:70081200-70087400	Enhancers	Brain Angular Gyrus	brain
19	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:70081400-70083600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:70081600-70083800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:70082000-70083600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:70082200-70083600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:70082400-70083800	Enhancers	Colonic Mucosa	Colon
26	chr14:70082400-70084400	Weak transcription	Lung	lung
27	chr14:70082400-70084800	Enhancers	Fetal Intestine Small	intestine
28	chr14:70082400-70086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:70082400-70092000	Weak transcription	Gastric	stomach
31	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:70082600-70083600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:70082600-70085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:70082600-70088000	Weak transcription	HepG2	liver
35	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
36	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
37	chr14:70082800-70083600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr14:70082800-70083800	Enhancers	HSMM	muscle
39	chr14:70082800-70084000	Enhancers	Fetal Heart	heart
40	chr14:70082800-70084000	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:70082800-70084400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:70082800-70085200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:70082800-70086000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:70082800-70086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
46	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:70083000-70083600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:70083000-70083600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:70083000-70083600	Enhancers	Fetal Thymus	thymus
50	chr14:70083000-70083800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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