Variant report

Variant	rs749270
Chromosome Location	chr14:68053124-68053125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr14:68053038-68053387	GM12878	blood:	n/a	chr14:68053265-68053274 chr14:68053265-68053274
2	POLR2A	chr14:68053092-68053214	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68052079..68053763-chr14:68065280..68066980,2	K562	blood:
2	chr14:68046572..68048397-chr14:68052167..68055825,3	MCF-7	breast:
3	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000100564	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129995	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3742872	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742875	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45474396	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61990083	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61990086	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990087	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990109	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61990110	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990111	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990112	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61990113	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990114	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990115	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990116	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990117	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573785	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146307	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72721044	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010574	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8011057	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
3	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:68026600-68055200	Weak transcription	HMEC	breast
6	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
8	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
9	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
10	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:68040600-68055400	Weak transcription	HepG2	liver
13	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:68043800-68054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:68044000-68054600	Weak transcription	Liver	Liver
18	chr14:68044600-68056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
20	chr14:68044800-68054000	Weak transcription	Psoas Muscle	Psoas
21	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:68045000-68057000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:68045000-68057600	Strong transcription	Brain Substantia Nigra	brain
24	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
25	chr14:68046000-68054800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:68046200-68054800	Weak transcription	Ovary	ovary
27	chr14:68047200-68054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68047400-68054600	Weak transcription	Esophagus	oesophagus
29	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:68047600-68057600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:68048000-68054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:68048000-68054800	Weak transcription	Right Ventricle	heart
33	chr14:68048000-68059800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
36	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:68048600-68056600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:68048800-68058800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:68049000-68056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:68049000-68056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
42	chr14:68049400-68054200	Strong transcription	Fetal Intestine Small	intestine
43	chr14:68049600-68054200	Strong transcription	Fetal Intestine Large	intestine
44	chr14:68050200-68059200	Strong transcription	Brain Angular Gyrus	brain
45	chr14:68050200-68059600	Strong transcription	Fetal Brain Female	brain
46	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
47	chr14:68050400-68055200	Strong transcription	Pancreas	Pancrea
48	chr14:68050600-68057600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:68050800-68055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:68050800-68056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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