Variant report

Variant	rs73229383
Chromosome Location	chr3:112278241-112278242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112276984..112278823-chr3:112279239..112281629,2	MCF-7	breast:
2	chr3:112277732..112280310-chr3:112708635..112710146,2	K562	blood:
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:
6	chr3:112272255..112274870-chr3:112277581..112280165,3	K562	blood:

Variant related genes	Relation type
ENSG00000144848	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000138459	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12497217	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17233531	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17233925	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17233960	0.89[ASN][1000 genomes]
rs17235583	0.83[AFR][1000 genomes]
rs73229382	0.94[ASN][1000 genomes]
rs923349	0.89[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112244400-112278400	Weak transcription	HSMMtube	muscle
2	chr3:112245800-112279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:112247600-112279600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:112249200-112278400	Weak transcription	Aorta	Aorta
5	chr3:112249200-112279600	Weak transcription	Esophagus	oesophagus
6	chr3:112249200-112279600	Weak transcription	Gastric	stomach
7	chr3:112249200-112279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:112249400-112279600	Weak transcription	Lung	lung
9	chr3:112252600-112278400	Weak transcription	Fetal Kidney	kidney
10	chr3:112253200-112278600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:112260400-112279600	Weak transcription	Pancreas	Pancrea
12	chr3:112266200-112278400	Weak transcription	Colonic Mucosa	Colon
13	chr3:112266800-112278400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:112267000-112278400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:112267000-112278400	Weak transcription	NHDF-Ad	bronchial
16	chr3:112267200-112278400	Weak transcription	Thymus	Thymus
17	chr3:112267200-112279200	Weak transcription	Right Ventricle	heart
18	chr3:112267600-112278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:112267600-112279600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:112267800-112278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:112267800-112278400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:112267800-112278400	Weak transcription	NH-A	brain
23	chr3:112268600-112278400	Weak transcription	Placenta	Placenta
24	chr3:112270200-112278400	Weak transcription	Psoas Muscle	Psoas
25	chr3:112270200-112278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:112270200-112278400	Weak transcription	HMEC	breast
27	chr3:112270200-112279600	Weak transcription	Left Ventricle	heart
28	chr3:112274600-112278400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:112274800-112278400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:112274800-112278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:112275000-112278600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:112275000-112278600	Weak transcription	Stomach Mucosa	stomach
33	chr3:112275200-112278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:112275800-112279200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr3:112276200-112278400	Enhancers	Primary B cells from cord blood	blood
36	chr3:112276200-112278400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:112276400-112278600	Weak transcription	Fetal Stomach	stomach
38	chr3:112276400-112279600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:112276400-112279600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:112276400-112279800	Weak transcription	Spleen	Spleen
41	chr3:112276600-112278400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:112276600-112278400	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:112276600-112278400	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:112276600-112278600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:112276600-112278800	Weak transcription	Fetal Intestine Small	intestine
46	chr3:112276600-112278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:112276800-112278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:112276800-112278400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:112276800-112278600	Enhancers	Colon Smooth Muscle	Colon
50	chr3:112276800-112279600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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