Variant report

Variant	rs73214207
Chromosome Location	chr3:112349670-112349671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112345807..112347759-chr3:112347769..112350964,3	MCF-7	breast:
2	chr3:112346979..112353983-chr3:112357134..112359925,9	K562	blood:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12497217	0.83[EUR][1000 genomes]
rs13084615	0.85[EUR][1000 genomes]
rs16859875	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235583	0.86[EUR][1000 genomes]
rs55987232	0.85[EUR][1000 genomes]
rs6438085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229382	0.80[EUR][1000 genomes]
rs73231362	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73231368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636528	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855853	0.85[EUR][1000 genomes]
rs9858844	0.88[EUR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112331200-112351600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:112331400-112354800	Weak transcription	Psoas Muscle	Psoas
3	chr3:112336200-112351600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:112336600-112351400	Weak transcription	Fetal Lung	lung
5	chr3:112336600-112355800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112341400-112351400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:112342600-112350000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:112342600-112359600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:112342800-112350000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:112343000-112351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:112343400-112358000	Weak transcription	Pancreas	Pancrea
12	chr3:112344800-112350000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:112345000-112353800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:112345200-112359400	Weak transcription	Esophagus	oesophagus
15	chr3:112346000-112350400	Enhancers	Adipose Nuclei	Adipose
16	chr3:112346200-112352400	Weak transcription	Brain Anterior Caudate	brain
17	chr3:112346200-112352400	Weak transcription	Fetal Brain Female	brain
18	chr3:112346400-112354000	Weak transcription	Fetal Heart	heart
19	chr3:112346600-112353800	Weak transcription	Aorta	Aorta
20	chr3:112347000-112350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:112347000-112351400	Genic enhancers	Osteobl	bone
22	chr3:112347200-112351200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:112347400-112350600	Weak transcription	Fetal Intestine Large	intestine
24	chr3:112347400-112351600	Weak transcription	Ovary	ovary
25	chr3:112347600-112350000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:112347800-112353200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:112348000-112351400	Enhancers	Colon Smooth Muscle	Colon
28	chr3:112348000-112353200	Enhancers	Rectal Smooth Muscle	rectum
29	chr3:112348200-112351400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:112348200-112351600	Genic enhancers	HSMM	muscle
31	chr3:112348200-112351800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:112348200-112351800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:112348200-112358400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:112348600-112351000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:112348600-112351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:112348600-112357200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:112348800-112349800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:112348800-112350000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:112348800-112350000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:112348800-112350000	Weak transcription	Right Atrium	heart
41	chr3:112348800-112350000	Genic enhancers	NHDF-Ad	bronchial
42	chr3:112348800-112350200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:112348800-112350200	Genic enhancers	NHLF	lung
44	chr3:112348800-112351400	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr3:112348800-112351600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:112348800-112353800	Weak transcription	GM12878-XiMat	blood
47	chr3:112348800-112358400	Weak transcription	Hela-S3	cervix
48	chr3:112349000-112350400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:112349000-112351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:112349000-112351800	Weak transcription	HMEC	breast

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