Variant report

Variant	rs749269
Chromosome Location	chr14:68052983-68052984
allele	A/G
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	POLR2A	chr14:68052299-68053027	K562	blood:	n/a	n/a
2	CTCF	chr14:68052900-68053050	SAEC	small airway:	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
ENSG00000054690	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11626860	1.00[AFR][1000 genomes]
rs12878157	1.00[ASW][hapmap]
rs12881114	1.00[ASW][hapmap]
rs2236230	0.91[ASN][1000 genomes]
rs35108968	0.94[ASN][1000 genomes]
rs3809389	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45451797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45571637	0.94[ASN][1000 genomes]
rs4899212	0.84[GIH][hapmap];0.93[JPT][hapmap]
rs56785855	0.82[ASN][1000 genomes]
rs61988249	1.00[AFR][1000 genomes]
rs61990085	0.94[ASN][1000 genomes]
rs7146307	0.83[GIH][hapmap];0.93[JPT][hapmap]
rs7410	1.00[ASW][hapmap]

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:108 , 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	chr14:68022800-68053000	Weak transcription	Lung	lung
4	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:68026600-68055200	Weak transcription	HMEC	breast
7	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
9	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
10	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
11	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:68040600-68055400	Weak transcription	HepG2	liver
14	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:68043800-68054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:68044000-68054600	Weak transcription	Liver	Liver
19	chr14:68044600-68056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
21	chr14:68044800-68054000	Weak transcription	Psoas Muscle	Psoas
22	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:68045000-68057000	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:68045000-68057600	Strong transcription	Brain Substantia Nigra	brain
25	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
26	chr14:68045600-68053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:68046000-68054800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:68046200-68054800	Weak transcription	Ovary	ovary
29	chr14:68046800-68053000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:68047200-68054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:68047400-68054600	Weak transcription	Esophagus	oesophagus
32	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:68047600-68057600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr14:68048000-68054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:68048000-68054800	Weak transcription	Right Ventricle	heart
36	chr14:68048000-68059800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
39	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:68048600-68056600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:68048800-68058800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:68049000-68056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:68049000-68056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
45	chr14:68049400-68054200	Strong transcription	Fetal Intestine Small	intestine
46	chr14:68049600-68054200	Strong transcription	Fetal Intestine Large	intestine
47	chr14:68050200-68059200	Strong transcription	Brain Angular Gyrus	brain
48	chr14:68050200-68059600	Strong transcription	Fetal Brain Female	brain
49	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
50	chr14:68050400-68055200	Strong transcription	Pancreas	Pancrea

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