Variant report

Variant	rs28463730
Chromosome Location	chr14:97264867-97264868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97264592..97266800-chr14:97290033..97292350,2	K562	blood:
2	chr14:96966745..96968586-chr14:97263969..97266226,2	K562	blood:
3	chr14:97256997..97259190-chr14:97264213..97266084,2	K562	blood:
4	chr14:97263731..97266819-chr14:97323461..97326778,3	K562	blood:
5	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:
6	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: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10131762	0.94[EUR][1000 genomes]
rs10132650	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138598	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10142862	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143496	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146186	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148005	0.94[EUR][1000 genomes]
rs10148863	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10148869	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13379109	0.83[AMR][1000 genomes]
rs2145637	0.94[EUR][1000 genomes]
rs2369902	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567991	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28582851	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28587799	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635274	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640027	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28667199	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28775320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683717	1.00[ASN][1000 genomes]
rs55696055	0.94[EUR][1000 genomes]
rs56039316	1.00[ASN][1000 genomes]
rs57221296	0.83[AMR][1000 genomes]
rs58143547	0.83[AMR][1000 genomes]
rs59426888	0.94[EUR][1000 genomes]
rs60476292	0.94[EUR][1000 genomes]
rs60917192	1.00[ASN][1000 genomes]
rs7156165	1.00[ASN][1000 genomes]
rs73355666	0.94[EUR][1000 genomes]
rs74076130	0.94[EUR][1000 genomes]
rs74076183	0.83[AMR][1000 genomes]
rs74076190	0.83[AMR][1000 genomes]
rs8019781	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022356	0.94[EUR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97263200-97265000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:97263200-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:97263200-97265000	Active TSS	GM12878-XiMat	blood
4	chr14:97263200-97265000	Active TSS	K562	blood
5	chr14:97263200-97265000	Active TSS	NHDF-Ad	bronchial
6	chr14:97263200-97265200	Active TSS	A549	lung
7	chr14:97263400-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:97263400-97265200	Active TSS	Fetal Brain Female	brain
9	chr14:97263600-97265000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:97263600-97265000	Active TSS	Fetal Thymus	thymus
11	chr14:97263600-97265600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:97264000-97265000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:97264000-97265200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:97264000-97265200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:97264000-97265400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:97264200-97265000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr14:97264200-97265000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr14:97264200-97265000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:97264200-97265000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:97264200-97265000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:97264200-97265000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:97264200-97265000	Flanking Active TSS	HUVEC	blood vessel
23	chr14:97264200-97265200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:97264200-97265200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr14:97264400-97265000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:97264400-97265000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:97264400-97265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:97264400-97265000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:97264400-97265000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr14:97264400-97265000	Flanking Active TSS	Osteobl	bone
31	chr14:97264400-97265200	Flanking Active TSS	Hela-S3	cervix
32	chr14:97264400-97265400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:97264400-97265600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr14:97264600-97265000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:97264600-97265000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:97264600-97265000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:97264600-97265000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:97264600-97265000	Enhancers	Liver	Liver
39	chr14:97264600-97265000	Flanking Active TSS	HMEC	breast
40	chr14:97264600-97265200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr14:97264600-97265200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:97264600-97265200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:97264600-97265200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:97264600-97265200	Enhancers	Fetal Lung	lung
45	chr14:97264600-97265400	Flanking Active TSS	NHEK	skin
46	chr14:97264600-97266800	Flanking Active TSS	Dnd41	blood
47	chr14:97264600-97272400	Weak transcription	Spleen	Spleen
48	chr14:97264800-97265000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr14:97264800-97265000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:97264800-97265000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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