Variant report

Variant	rs16973477
Chromosome Location	chr16:71887381-71887382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71884897..71886779-chr16:71887255..71889485,3	MCF-7	breast:
2	chr16:71884164..71890391-chr16:71916479..71919375,6	K562	blood:
3	chr16:71840682..71843021-chr16:71886278..71888622,2	K562	blood:
4	chr16:71887357..71889780-chr16:72133363..72136348,2	MCF-7	breast:
5	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140829	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1049794	0.89[AFR][1000 genomes]
rs12600163	0.85[CHB][hapmap]
rs1549292	0.83[CEU][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes]
rs16973500	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[LWK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs16973520	0.83[JPT][hapmap]
rs2878491	0.85[AFR][1000 genomes]
rs3794691	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57807129	0.89[AFR][1000 genomes]
rs57949916	0.83[AFR][1000 genomes]
rs61523290	0.96[AFR][1000 genomes]
rs72801786	0.89[AFR][1000 genomes]
rs72801789	0.87[AFR][1000 genomes]
rs72801797	0.89[AFR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16973477	MTSS1L	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71889400	Weak transcription	Psoas Muscle	Psoas
3	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
4	chr16:71881800-71887400	Strong transcription	Fetal Intestine Large	intestine
5	chr16:71881800-71887800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:71881800-71887800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:71881800-71888000	Strong transcription	NHEK	skin
8	chr16:71881800-71889200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:71881800-71890000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:71881800-71890200	Strong transcription	Placenta	Placenta
11	chr16:71881800-71890200	Strong transcription	Osteobl	bone
12	chr16:71881800-71890400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:71881800-71890800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:71881800-71890800	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:71882000-71888200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr16:71882000-71888600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:71882000-71889400	Strong transcription	Brain Anterior Caudate	brain
25	chr16:71882000-71890200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:71882000-71890400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr16:71882000-71890600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
29	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:71882200-71887600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:71882200-71887800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:71882200-71888000	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr16:71882200-71888000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:71882200-71888200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:71882200-71888200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr16:71882200-71888400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:71882200-71889400	Strong transcription	Brain Angular Gyrus	brain
38	chr16:71882200-71890400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:71882400-71889000	Strong transcription	Liver	Liver
40	chr16:71882400-71889800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr16:71882400-71890600	Strong transcription	Brain Hippocampus Middle	brain
42	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
43	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:71882600-71887400	Strong transcription	Left Ventricle	heart
45	chr16:71882600-71888000	Strong transcription	Aorta	Aorta
46	chr16:71882600-71888400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr16:71882600-71889200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:71882600-71890200	Strong transcription	Lung	lung
49	chr16:71882800-71888000	Strong transcription	HUVEC	blood vessel
50	chr16:71882800-71889400	Strong transcription	Gastric	stomach

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