Variant report

Variant	rs7158988
Chromosome Location	chr14:31471114-31471115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31470358..31472659-chr14:31494008..31496265,3	MCF-7	breast:
2	chr14:31469435..31474245-chr14:31493637..31497268,6	MCF-7	breast:
3	chr14:31466156..31467918-chr14:31469337..31472276,2	K562	blood:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10129393	0.85[ASN][1000 genomes]
rs10483354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474800	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097598	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179716	0.90[ASN][1000 genomes]
rs179729	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs179732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1955562	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955563	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955566	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2179932	0.90[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742920	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981083	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981801	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61116407	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142286	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153166	0.81[ASN][1000 genomes]
rs7158412	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73256099	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73257912	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73260377	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74040963	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008339	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010398	0.94[ASN][1000 genomes]
rs8010967	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8020369	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
6	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
7	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
8	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:31465600-31474000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:31465600-31474000	Weak transcription	Left Ventricle	heart
13	chr14:31465600-31480400	Weak transcription	Ovary	ovary
14	chr14:31465600-31487400	Weak transcription	Spleen	Spleen
15	chr14:31466400-31490000	Weak transcription	NHDF-Ad	bronchial
16	chr14:31466600-31474800	Weak transcription	Esophagus	oesophagus
17	chr14:31467000-31474800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:31467200-31471200	Strong transcription	HSMM	muscle
19	chr14:31467800-31471800	Weak transcription	Adipose Nuclei	Adipose
20	chr14:31467800-31472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:31467800-31473800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:31467800-31481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:31467800-31484400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:31467800-31485000	Weak transcription	Hela-S3	cervix
25	chr14:31467800-31487400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:31467800-31487400	Weak transcription	Thymus	Thymus
27	chr14:31467800-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:31467800-31493000	Weak transcription	HSMMtube	muscle
29	chr14:31467800-31493400	Weak transcription	Brain Angular Gyrus	brain
30	chr14:31468000-31471800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:31468000-31472000	Weak transcription	K562	blood
32	chr14:31468000-31474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:31468000-31474000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:31468000-31474000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:31468000-31474200	Weak transcription	Liver	Liver
36	chr14:31468000-31474600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:31468000-31481800	Weak transcription	Lung	lung
38	chr14:31468000-31487600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:31468000-31489200	Weak transcription	NHLF	lung
40	chr14:31468000-31490200	Weak transcription	NH-A	brain
41	chr14:31468000-31493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:31468200-31472600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:31468200-31472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:31468200-31474400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:31468200-31475200	Weak transcription	Osteobl	bone
46	chr14:31468200-31487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:31468400-31471800	Weak transcription	HMEC	breast
48	chr14:31468400-31493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:31468400-31493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:31468600-31472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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