Variant report

Variant	rs13230450
Chromosome Location	chr7:112754904-112754905
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112738100..112740968-chr7:112754708..112756383,2	K562	blood:
2	chr7:112723034..112725310-chr7:112753782..112755599,2	MCF-7	breast:
3	chr7:112748491..112751404-chr7:112754696..112757418,3	MCF-7	breast:
4	chr7:112753755..112755851-chr7:112756779..112758396,2	MCF-7	breast:
5	chr7:112739468..112741215-chr7:112753236..112756208,2	K562	blood:

Variant related genes	Relation type
ENSG00000225457	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12705846	0.92[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12705847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229301	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1590154	0.83[CEU][hapmap];0.81[CHD][hapmap]
rs1599834	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1599836	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1610281	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2272260	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112740400-112756000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:112740600-112757600	Weak transcription	Right Atrium	heart
3	chr7:112740600-112758000	Weak transcription	Aorta	Aorta
4	chr7:112741000-112757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:112743000-112757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112748800-112757600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:112748800-112757600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:112749000-112757400	Weak transcription	Left Ventricle	heart
9	chr7:112749200-112757400	Weak transcription	Psoas Muscle	Psoas
10	chr7:112749200-112757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:112749600-112757400	Weak transcription	HMEC	breast
12	chr7:112749800-112755600	Weak transcription	Placenta	Placenta
13	chr7:112749800-112757600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:112750000-112757400	Weak transcription	NHEK	skin
15	chr7:112750200-112755200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:112750200-112757400	Weak transcription	NHLF	lung
17	chr7:112750400-112755600	Weak transcription	NH-A	brain
18	chr7:112750400-112757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:112750400-112757800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:112750600-112757400	Weak transcription	Osteobl	bone
21	chr7:112750800-112757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:112750800-112757800	Weak transcription	Fetal Stomach	stomach
23	chr7:112751000-112757400	Weak transcription	HUVEC	blood vessel
24	chr7:112751000-112757400	Weak transcription	NHDF-Ad	bronchial
25	chr7:112751000-112758200	Weak transcription	Lung	lung
26	chr7:112751200-112755600	Weak transcription	Ovary	ovary
27	chr7:112751200-112757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:112751200-112758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:112751400-112757400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:112751400-112757600	Weak transcription	Primary T cells from cord blood	blood
31	chr7:112751600-112755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:112751600-112756200	Weak transcription	Gastric	stomach
33	chr7:112751600-112757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:112751600-112757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:112751600-112757600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:112751800-112755400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:112751800-112757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:112751800-112757400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:112751800-112757400	Weak transcription	HSMMtube	muscle
40	chr7:112751800-112757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:112751800-112757800	Weak transcription	Small Intestine	intestine
42	chr7:112752000-112755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:112752000-112756000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:112752400-112755600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:112752400-112756200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:112752400-112757400	Weak transcription	Fetal Intestine Small	intestine
47	chr7:112752400-112757600	Weak transcription	Fetal Kidney	kidney
48	chr7:112752600-112755400	Weak transcription	Fetal Thymus	thymus
49	chr7:112752600-112755800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:112752600-112755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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