Variant report

Variant	rs981180
Chromosome Location	chr3:112353099-112353100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112338141..112343361-chr3:112351475..112354709,4	MCF-7	breast:
2	chr3:112350080..112353120-chr3:112708595..112712214,3	K562	blood:
3	chr3:112346448..112348470-chr3:112351397..112354527,3	K562	blood:
4	chr3:112346979..112353983-chr3:112357134..112359925,9	K562	blood:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1154272	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1249913	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1398092	1.00[YRI][hapmap]
rs1488263	1.00[YRI][hapmap]
rs2705540	1.00[YRI][hapmap]
rs2931761	1.00[YRI][hapmap]
rs4682113	0.90[AFR][1000 genomes]
rs6809467	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7373716	0.90[AFR][1000 genomes]
rs7624745	0.90[AFR][1000 genomes]
rs820570	0.90[AFR][1000 genomes]
rs981182	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS 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	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112331400-112354800	Weak transcription	Psoas Muscle	Psoas
2	chr3:112336600-112355800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:112342600-112359600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:112343400-112358000	Weak transcription	Pancreas	Pancrea
5	chr3:112345000-112353800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:112345200-112359400	Weak transcription	Esophagus	oesophagus
7	chr3:112346400-112354000	Weak transcription	Fetal Heart	heart
8	chr3:112346600-112353800	Weak transcription	Aorta	Aorta
9	chr3:112347800-112353200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:112348000-112353200	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:112348200-112358400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:112348600-112357200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:112348800-112353800	Weak transcription	GM12878-XiMat	blood
14	chr3:112348800-112358400	Weak transcription	Hela-S3	cervix
15	chr3:112349000-112354400	Enhancers	A549	lung
16	chr3:112349200-112354400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:112350000-112353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:112350000-112353600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:112350000-112354400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:112350000-112354600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:112350000-112354600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:112350000-112354600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:112350200-112354400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr3:112351200-112353800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:112351200-112354000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:112351200-112355600	Enhancers	Fetal Kidney	kidney
27	chr3:112351400-112354000	Enhancers	Fetal Lung	lung
28	chr3:112351400-112354200	Enhancers	Fetal Stomach	stomach
29	chr3:112351400-112355000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:112351400-112358600	Transcr. at gene 5' and 3'	Osteobl	bone
31	chr3:112351600-112353400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:112351600-112354200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:112351800-112354000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr3:112351800-112354200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:112351800-112354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:112351800-112355200	Weak transcription	Right Atrium	heart
37	chr3:112351800-112357800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:112352000-112353600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:112352000-112356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:112352200-112354000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:112352200-112354400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:112352400-112353600	Genic enhancers	HSMM	muscle
43	chr3:112352400-112353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:112352400-112354400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr3:112352600-112353200	Active TSS	Stomach Smooth Muscle	stomach
46	chr3:112352600-112353200	Weak transcription	HSMMtube	muscle
47	chr3:112352600-112353200	Transcr. at gene 5' and 3'	NH-A	brain
48	chr3:112352600-112353400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:112352600-112353600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:112352600-112353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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