Variant report

Variant	rs7149464
Chromosome Location	chr14:97264584-97264585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96966745..96968586-chr14:97263969..97266226,2	K562	blood:
2	chr14:97256997..97259190-chr14:97264213..97266084,2	K562	blood:
3	chr14:97263731..97266819-chr14:97323461..97326778,3	K562	blood:
4	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:
5	chr14:97263932..97266038-chr14:97266708..97268317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147248	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17094552	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094594	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs73355679	0.97[EUR][1000 genomes]
rs7494297	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.92[EUR][1000 genomes]
rs9635293	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97263200-97264600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:97263200-97264600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr14:97263200-97264800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:97263200-97264800	Active TSS	Brain Angular Gyrus	brain
5	chr14:97263200-97265000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:97263200-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:97263200-97265000	Active TSS	GM12878-XiMat	blood
8	chr14:97263200-97265000	Active TSS	K562	blood
9	chr14:97263200-97265000	Active TSS	NHDF-Ad	bronchial
10	chr14:97263200-97265200	Active TSS	A549	lung
11	chr14:97263400-97264600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:97263400-97264600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:97263400-97264600	Active TSS	Fetal Kidney	kidney
14	chr14:97263400-97264600	Active TSS	HMEC	breast
15	chr14:97263400-97264800	Active TSS	HSMM	muscle
16	chr14:97263400-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:97263400-97265200	Active TSS	Fetal Brain Female	brain
18	chr14:97263600-97264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:97263600-97264600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:97263600-97264600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:97263600-97264600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:97263600-97264600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr14:97263600-97264600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:97263600-97264600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:97263600-97264600	Active TSS	Small Intestine	intestine
26	chr14:97263600-97264600	Active TSS	Dnd41	blood
27	chr14:97263600-97264600	Active TSS	HSMMtube	muscle
28	chr14:97263600-97264600	Active TSS	NHEK	skin
29	chr14:97263600-97264800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:97263600-97264800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:97263600-97264800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:97263600-97264800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:97263600-97264800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:97263600-97264800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:97263600-97264800	Active TSS	Fetal Intestine Small	intestine
36	chr14:97263600-97265000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr14:97263600-97265000	Active TSS	Fetal Thymus	thymus
38	chr14:97263600-97265600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:97263800-97264600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:97263800-97264600	Active TSS	Fetal Intestine Large	intestine
41	chr14:97264000-97264600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr14:97264000-97264600	Flanking Active TSS	Liver	Liver
43	chr14:97264000-97264600	Flanking Active TSS	Colonic Mucosa	Colon
44	chr14:97264000-97264600	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr14:97264000-97264600	Flanking Active TSS	Lung	lung
46	chr14:97264000-97264600	Flanking Active TSS	Pancreas	Pancrea
47	chr14:97264000-97264600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
48	chr14:97264000-97264600	Flanking Active TSS	Right Ventricle	heart
49	chr14:97264000-97264600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr14:97264000-97264600	Flanking Active TSS	Spleen	Spleen

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