Variant report

Variant	rs73229382
Chromosome Location	chr3:112277573-112277574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112276557..112278101-chr3:112358499..112360515,2	MCF-7	breast:
2	chr3:112276984..112278823-chr3:112279239..112281629,2	MCF-7	breast:
3	chr3:112271839..112274196-chr3:112276069..112278465,2	K562	blood:
4	chr3:112267679..112269481-chr3:112276502..112278431,2	MCF-7	breast:
5	chr3:111815832..111818403-chr3:112276886..112278586,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138459	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000144848	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12497217	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16859875	0.80[EUR][1000 genomes]
rs17233531	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17233925	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17233960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17235583	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55987232	0.90[EUR][1000 genomes]
rs6438085	0.80[EUR][1000 genomes]
rs6774572	0.80[EUR][1000 genomes]
rs6774776	0.80[EUR][1000 genomes]
rs73214207	0.80[EUR][1000 genomes]
rs73229383	0.94[ASN][1000 genomes]
rs73231362	0.80[EUR][1000 genomes]
rs73231368	0.80[EUR][1000 genomes]
rs73231371	0.80[EUR][1000 genomes]
rs7636528	0.80[EUR][1000 genomes]
rs923349	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112244400-112278200	Weak transcription	K562	blood
2	chr3:112244400-112278400	Weak transcription	HSMMtube	muscle
3	chr3:112245800-112279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:112247600-112279600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:112249200-112278200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:112249200-112278400	Weak transcription	Aorta	Aorta
7	chr3:112249200-112279600	Weak transcription	Esophagus	oesophagus
8	chr3:112249200-112279600	Weak transcription	Gastric	stomach
9	chr3:112249200-112279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:112249400-112279600	Weak transcription	Lung	lung
11	chr3:112252600-112278400	Weak transcription	Fetal Kidney	kidney
12	chr3:112253200-112278600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112260000-112278200	Weak transcription	Fetal Brain Male	brain
14	chr3:112260400-112279600	Weak transcription	Pancreas	Pancrea
15	chr3:112266200-112278200	Weak transcription	Fetal Heart	heart
16	chr3:112266200-112278200	Weak transcription	NHLF	lung
17	chr3:112266200-112278400	Weak transcription	Colonic Mucosa	Colon
18	chr3:112266400-112278200	Weak transcription	NHEK	skin
19	chr3:112266800-112278400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:112267000-112278400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:112267000-112278400	Weak transcription	NHDF-Ad	bronchial
22	chr3:112267200-112278400	Weak transcription	Thymus	Thymus
23	chr3:112267200-112279200	Weak transcription	Right Ventricle	heart
24	chr3:112267600-112278200	Weak transcription	Ovary	ovary
25	chr3:112267600-112278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:112267600-112279600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:112267800-112278200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:112267800-112278200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:112267800-112278200	Weak transcription	Fetal Brain Female	brain
30	chr3:112267800-112278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:112267800-112278400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:112267800-112278400	Weak transcription	NH-A	brain
33	chr3:112268000-112278200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:112268000-112278200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:112268000-112278200	Weak transcription	Fetal Lung	lung
36	chr3:112268000-112278200	Weak transcription	Osteobl	bone
37	chr3:112268200-112278000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:112268600-112278400	Weak transcription	Placenta	Placenta
39	chr3:112270200-112277800	Weak transcription	Small Intestine	intestine
40	chr3:112270200-112278200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:112270200-112278200	Weak transcription	HSMM	muscle
42	chr3:112270200-112278400	Weak transcription	Psoas Muscle	Psoas
43	chr3:112270200-112278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:112270200-112278400	Weak transcription	HMEC	breast
45	chr3:112270200-112279600	Weak transcription	Left Ventricle	heart
46	chr3:112270400-112278000	Weak transcription	HepG2	liver
47	chr3:112274600-112278200	Weak transcription	Liver	Liver
48	chr3:112274600-112278400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:112274800-112278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:112274800-112278200	Weak transcription	Muscle Satellite Cultured Cells	--

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