Variant report

Variant	rs7148950
Chromosome Location	chr14:97264382-97264383
allele	A/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: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131963	1.00[ASN][1000 genomes]
rs10147248	1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094552	1.00[ASN][1000 genomes]
rs17094594	1.00[ASN][1000 genomes]
rs1957136	1.00[ASN][1000 genomes]
rs2145633	1.00[ASN][1000 genomes]
rs2145634	1.00[ASN][1000 genomes]
rs55657801	1.00[ASN][1000 genomes]
rs55696631	1.00[ASN][1000 genomes]
rs56116530	1.00[ASN][1000 genomes]
rs56165690	1.00[ASN][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7149464	1.00[ASN][1000 genomes]
rs7494297	1.00[ASN][1000 genomes]
rs8016074	1.00[ASN][1000 genomes]
rs9635293	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97263200-97264400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:97263200-97264400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:97263200-97264400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:97263200-97264400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr14:97263200-97264400	Active TSS	Brain Anterior Caudate	brain
6	chr14:97263200-97264400	Active TSS	NH-A	brain
7	chr14:97263200-97264400	Active TSS	Osteobl	bone
8	chr14:97263200-97264600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:97263200-97264600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr14:97263200-97264800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:97263200-97264800	Active TSS	Brain Angular Gyrus	brain
12	chr14:97263200-97265000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:97263200-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:97263200-97265000	Active TSS	GM12878-XiMat	blood
15	chr14:97263200-97265000	Active TSS	K562	blood
16	chr14:97263200-97265000	Active TSS	NHDF-Ad	bronchial
17	chr14:97263200-97265200	Active TSS	A549	lung
18	chr14:97263400-97264400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr14:97263400-97264400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:97263400-97264400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:97263400-97264400	Active TSS	Thymus	Thymus
22	chr14:97263400-97264600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:97263400-97264600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:97263400-97264600	Active TSS	Fetal Kidney	kidney
25	chr14:97263400-97264600	Active TSS	HMEC	breast
26	chr14:97263400-97264800	Active TSS	HSMM	muscle
27	chr14:97263400-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:97263400-97265200	Active TSS	Fetal Brain Female	brain
29	chr14:97263600-97264400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr14:97263600-97264400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:97263600-97264400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:97263600-97264400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:97263600-97264400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:97263600-97264400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr14:97263600-97264400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr14:97263600-97264400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:97263600-97264400	Active TSS	Ovary	ovary
38	chr14:97263600-97264400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr14:97263600-97264400	Active TSS	Hela-S3	cervix
40	chr14:97263600-97264400	Active TSS	NHLF	lung
41	chr14:97263600-97264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:97263600-97264600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:97263600-97264600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:97263600-97264600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:97263600-97264600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr14:97263600-97264600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:97263600-97264600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:97263600-97264600	Active TSS	Small Intestine	intestine
49	chr14:97263600-97264600	Active TSS	Dnd41	blood
50	chr14:97263600-97264600	Active TSS	HSMMtube	muscle

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