Variant report

Variant	rs4985419
Chromosome Location	chr16:70747386-70747387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70744957..70747515-chr16:70780851..70782710,2	MCF-7	breast:
2	chr16:70745252..70749380-chr16:70778877..70781529,7	MCF-7	breast:
3	chr16:70729407..70732134-chr16:70745492..70747752,2	K562	blood:
4	chr16:70745639..70748512-chr16:70770742..70772516,3	MCF-7	breast:
5	chr16:70740784..70746452-chr16:70747278..70752169,9	K562	blood:
6	chr16:70743274..70745698-chr16:70747282..70749621,3	K562	blood:
7	chr16:70747047..70751292-chr16:70770500..70773277,5	MCF-7	breast:
8	chr16:70747354..70749001-chr16:70779560..70782438,2	K562	blood:
9	chr16:70745613..70748451-chr16:70833649..70836455,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11640251	0.90[ASN][1000 genomes]
rs11641739	0.92[ASN][1000 genomes]
rs11642770	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642775	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11649305	0.90[ASN][1000 genomes]
rs1551527	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8054653	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8059238	0.90[ASN][1000 genomes]
rs936302	0.90[ASN][1000 genomes]
rs9935596	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
6	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4985419	MTSS1L	cis	Thyroid	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
3	chr16:70731400-70755000	Weak transcription	Small Intestine	intestine
4	chr16:70732800-70749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:70733200-70759400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:70733400-70754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:70733800-70753400	Weak transcription	Dnd41	blood
8	chr16:70734600-70751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:70737000-70753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:70738000-70748400	Weak transcription	Psoas Muscle	Psoas
11	chr16:70738400-70748400	Weak transcription	Pancreas	Pancrea
12	chr16:70741000-70752800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:70741400-70753400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:70741600-70748000	Genic enhancers	Fetal Stomach	stomach
15	chr16:70741600-70748400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:70741600-70748400	Weak transcription	Colonic Mucosa	Colon
17	chr16:70741600-70748400	Weak transcription	Ovary	ovary
18	chr16:70741800-70747800	Weak transcription	Fetal Kidney	kidney
19	chr16:70741800-70748600	Weak transcription	Right Atrium	heart
20	chr16:70742000-70747400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr16:70742200-70748600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:70742200-70748800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:70742400-70747400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:70742400-70751200	Enhancers	Brain Hippocampus Middle	brain
25	chr16:70742400-70752600	Weak transcription	Hela-S3	cervix
26	chr16:70742600-70748400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:70743000-70748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:70743000-70749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:70743400-70749000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:70743600-70748800	Enhancers	Brain Germinal Matrix	brain
31	chr16:70744000-70749200	Enhancers	Fetal Lung	lung
32	chr16:70744000-70754800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:70744200-70748200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:70744200-70748200	Weak transcription	Left Ventricle	heart
35	chr16:70744200-70748600	Weak transcription	Esophagus	oesophagus
36	chr16:70744200-70750400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr16:70744200-70750800	Enhancers	Fetal Thymus	thymus
38	chr16:70744200-70752600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:70744400-70747600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:70744400-70747800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:70744400-70748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:70744400-70749200	Weak transcription	Adipose Nuclei	Adipose
43	chr16:70744400-70752600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr16:70744400-70752600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr16:70744400-70753000	Enhancers	Fetal Muscle Leg	muscle
46	chr16:70744400-70754000	Weak transcription	Aorta	Aorta
47	chr16:70744600-70747400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:70744600-70748600	Enhancers	Fetal Brain Male	brain
49	chr16:70744800-70750800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:70744800-70751400	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links