Variant report

Variant	rs60333237
Chromosome Location	chr14:54990978-54990979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:54989053..54991406-chr14:54993113..54995326,2	K562	blood:
2	chr14:54975572..54979671-chr14:54987996..54991941,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100532	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873085	1.00[EUR][1000 genomes]
rs17127740	1.00[EUR][1000 genomes]
rs17127743	1.00[EUR][1000 genomes]
rs17127752	1.00[EUR][1000 genomes]
rs17127755	1.00[EUR][1000 genomes]
rs28418605	1.00[EUR][1000 genomes]
rs57571275	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832802	chr14:54892054-55035267	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv870310	chr14:54956652-55010434	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:54977200-55005200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:54977400-55004800	Weak transcription	Gastric	stomach
3	chr14:54977400-55006800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:54977800-54991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:54977800-55005400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:54978000-54994800	Weak transcription	HMEC	breast
7	chr14:54978600-54991600	Weak transcription	NHLF	lung
8	chr14:54978600-54996600	Weak transcription	Small Intestine	intestine
9	chr14:54978800-55006800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:54979200-55004600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:54979400-55007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:54979600-54993600	Weak transcription	Fetal Heart	heart
13	chr14:54980000-55009000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:54980200-55008200	Weak transcription	Psoas Muscle	Psoas
15	chr14:54980200-55016800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:54981000-55006600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:54982600-54991800	Weak transcription	HSMM	muscle
18	chr14:54983200-54996000	Weak transcription	A549	lung
19	chr14:54983600-54995400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:54984800-55004800	Weak transcription	Fetal Kidney	kidney
21	chr14:54985200-55008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:54985400-55009400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:54987000-55006800	Weak transcription	NHEK	skin
24	chr14:54987600-55002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:54987800-54998400	Weak transcription	GM12878-XiMat	blood
26	chr14:54988000-54999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:54988000-55002200	Weak transcription	Fetal Brain Female	brain
28	chr14:54988600-54992200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:54988600-55006600	Weak transcription	Esophagus	oesophagus
30	chr14:54988600-55008600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:54988800-54996800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:54988800-54997800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:54989000-54992200	Strong transcription	Primary T cells from cord blood	blood
34	chr14:54989000-54992200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr14:54989000-54999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:54989200-54992000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:54989200-54992200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:54989200-54992200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:54989200-54992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:54989200-54992200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:54989200-54992400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:54989200-54992400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:54989200-54992600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:54989200-54992600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:54989200-54992800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:54989200-54992800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:54989200-54992800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr14:54989200-54992800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:54989200-54992800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:54989200-54992800	Strong transcription	Fetal Muscle Leg	muscle

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