Variant report

Variant	rs17121960
Chromosome Location	chr1:61787701-61787702
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	chr1:61605495..61608078-chr1:61787528..61789872,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11810930	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564092	0.83[ASN][1000 genomes]
rs3736758	0.82[ASN][1000 genomes]
rs57927770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58020890	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587916	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6694984	0.90[ASN][1000 genomes]
rs74086721	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086797	0.83[ASN][1000 genomes]
rs9436208	0.83[ASN][1000 genomes]
rs9436209	0.82[ASN][1000 genomes]
rs9436634	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9787075	0.82[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:61782200-61788600	Weak transcription	Fetal Brain Female	brain
4	chr1:61784000-61790000	Enhancers	Liver	Liver
5	chr1:61784600-61787800	Enhancers	NHEK	skin
6	chr1:61784600-61789600	Weak transcription	Right Ventricle	heart
7	chr1:61784800-61787800	Weak transcription	A549	lung
8	chr1:61784800-61788000	Weak transcription	Esophagus	oesophagus
9	chr1:61784800-61788000	Weak transcription	Gastric	stomach
10	chr1:61784800-61788000	Weak transcription	Pancreas	Pancrea
11	chr1:61784800-61789600	Weak transcription	Aorta	Aorta
12	chr1:61784800-61789600	Weak transcription	Psoas Muscle	Psoas
13	chr1:61784800-61791400	Enhancers	Fetal Lung	lung
14	chr1:61784800-61799400	Weak transcription	Left Ventricle	heart
15	chr1:61784800-61800400	Weak transcription	Ovary	ovary
16	chr1:61784800-61802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:61784800-61803200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:61784800-61803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:61785000-61797200	Weak transcription	HUVEC	blood vessel
20	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:61785200-61787800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:61785200-61788000	Weak transcription	Hela-S3	cervix
24	chr1:61785600-61789800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:61785600-61791200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:61786000-61789600	Weak transcription	Small Intestine	intestine
27	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:61786200-61788000	Weak transcription	Stomach Mucosa	stomach
29	chr1:61786200-61799000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:61786400-61789600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:61786400-61789800	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:61786400-61798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:61786600-61787800	Weak transcription	HepG2	liver
34	chr1:61786600-61787800	Weak transcription	K562	blood
35	chr1:61786600-61789600	Weak transcription	Fetal Heart	heart
36	chr1:61786600-61789800	Weak transcription	Fetal Stomach	stomach
37	chr1:61786600-61792400	Weak transcription	Right Atrium	heart
38	chr1:61786600-61799800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:61786600-61800400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:61786600-61800400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:61786600-61800400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:61786800-61787800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:61786800-61788000	Weak transcription	Placenta	Placenta
44	chr1:61787000-61787800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:61787000-61788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:61787000-61789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:61787000-61790800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:61787200-61790600	Enhancers	HMEC	breast
49	chr1:61787400-61787800	Enhancers	Adipose Nuclei	Adipose

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