Variant report

Variant	rs60897990
Chromosome Location	chr14:70165680-70165681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70077814..70079377-chr14:70164614..70166114,2	K562	blood:
2	chr14:70162413..70165840-chr14:70166006..70170268,6	K562	blood:
3	chr14:70159393..70161509-chr14:70164413..70166965,3	MCF-7	breast:
4	chr14:70163089..70166049-chr14:70176674..70179020,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10144825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107137	0.82[EUR][1000 genomes]
rs17107174	0.91[EUR][1000 genomes]
rs2184598	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784148	0.91[EUR][1000 genomes]
rs3784150	0.91[EUR][1000 genomes]
rs3784151	0.91[EUR][1000 genomes]
rs3809394	0.91[EUR][1000 genomes]
rs3809396	0.91[EUR][1000 genomes]
rs56153412	0.84[AFR][1000 genomes]
rs61094129	0.82[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:70159200-70165800	Enhancers	Left Ventricle	heart
5	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:70160000-70165800	Enhancers	Stomach Mucosa	stomach
7	chr14:70160000-70166000	Weak transcription	Aorta	Aorta
8	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
9	chr14:70160200-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:70160400-70169000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:70160800-70166000	Enhancers	Right Ventricle	heart
12	chr14:70161000-70169000	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
14	chr14:70161600-70166600	Enhancers	HepG2	liver
15	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:70162200-70168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:70162800-70178000	Weak transcription	HSMM	muscle
18	chr14:70163000-70168000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:70163000-70168000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:70163000-70168000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:70163000-70170000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:70163000-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:70163000-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:70163000-70170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:70163200-70167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:70163400-70167200	Weak transcription	Fetal Lung	lung
30	chr14:70163400-70168000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:70163400-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
34	chr14:70163600-70166400	Weak transcription	Right Atrium	heart
35	chr14:70163600-70166400	Enhancers	K562	blood
36	chr14:70163600-70166800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:70163600-70168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:70163600-70168000	Weak transcription	Fetal Stomach	stomach
39	chr14:70163600-70168400	Weak transcription	Thymus	Thymus
40	chr14:70163600-70170400	Weak transcription	HSMMtube	muscle
41	chr14:70163600-70170400	Weak transcription	NH-A	brain
42	chr14:70163600-70176000	Weak transcription	NHEK	skin
43	chr14:70163800-70167800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:70163800-70168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:70163800-70171000	Weak transcription	Osteobl	bone
46	chr14:70164000-70166000	Enhancers	Duodenum Mucosa	Duodenum
47	chr14:70164000-70166000	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:70164000-70166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:70164000-70167400	Weak transcription	Brain Angular Gyrus	brain
50	chr14:70164000-70167800	Weak transcription	Brain Substantia Nigra	brain

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