Variant report

Variant	rs41299195
Chromosome Location	chr14:67854846-67854847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67850111..67855173-chr14:67855331..67859014,5	K562	blood:
2	chr14:67854460..67856637-chr14:67859144..67860665,2	K562	blood:
3	chr14:67846584..67848955-chr14:67851906..67855058,3	K562	blood:
4	chr14:67835138..67837687-chr14:67853889..67855773,2	K562	blood:
5	chr14:67854344..67856660-chr14:67881111..67883754,2	K562	blood:
6	chr14:67852161..67854104-chr14:67854613..67856832,2	MCF-7	breast:
7	chr14:67846836..67848449-chr14:67854431..67855957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100558	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34300264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35680137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7147989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8017279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67829000-67855200	Strong transcription	Fetal Thymus	thymus
2	chr14:67830400-67855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:67830400-67855000	Strong transcription	Liver	Liver
4	chr14:67831000-67855200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr14:67835000-67857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:67835200-67855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:67837400-67855200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
13	chr14:67840800-67857200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:67841600-67855000	Strong transcription	Brain Hippocampus Middle	brain
15	chr14:67844200-67859200	Weak transcription	Esophagus	oesophagus
16	chr14:67844600-67855200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:67844800-67856000	Weak transcription	Fetal Brain Male	brain
18	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
19	chr14:67845400-67855800	Weak transcription	Aorta	Aorta
20	chr14:67845600-67859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
22	chr14:67849200-67860600	Strong transcription	Fetal Stomach	stomach
23	chr14:67849400-67857800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:67849600-67857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:67849600-67864400	Weak transcription	Gastric	stomach
26	chr14:67850000-67857200	Weak transcription	Right Ventricle	heart
27	chr14:67850000-67862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:67850200-67855400	Weak transcription	Fetal Kidney	kidney
29	chr14:67850200-67856000	Weak transcription	Ovary	ovary
30	chr14:67850200-67857200	Weak transcription	Spleen	Spleen
31	chr14:67850200-67858400	Weak transcription	Colonic Mucosa	Colon
32	chr14:67850200-67878400	Weak transcription	Lung	lung
33	chr14:67850400-67856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:67850600-67859600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:67850600-67862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:67850800-67855800	Weak transcription	HepG2	liver
37	chr14:67851000-67863200	Weak transcription	Fetal Lung	lung
38	chr14:67851400-67855200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:67851800-67855000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:67851800-67855200	Strong transcription	Thymus	Thymus
41	chr14:67851800-67855200	Genic enhancers	NHEK	skin
42	chr14:67851800-67855400	Weak transcription	Brain Substantia Nigra	brain
43	chr14:67852000-67857000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:67852000-67860200	Weak transcription	NHLF	lung
45	chr14:67852200-67855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:67852200-67856600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:67852200-67857800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:67852200-67858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:67852200-67862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:67852200-67863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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