Variant report

Variant	rs530807052
Chromosome Location	chr14:68555049-68555050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68554509..68557334-chr14:69260770..69262937,2	MCF-7	breast:
2	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
3	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
4	chr14:68554904..68556745-chr14:68657326..68660228,3	MCF-7	breast:
5	chr14:68548399..68550785-chr14:68554801..68556437,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv3424025	chr14:68553899-68555797	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68542800-68555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68545800-68555800	Weak transcription	Small Intestine	intestine
3	chr14:68547200-68567400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68549200-68555400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:68551400-68555200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:68552800-68555400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:68553000-68555200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:68553000-68555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:68553200-68555200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68553200-68555200	Weak transcription	HepG2	liver
11	chr14:68553200-68555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:68553200-68555600	Weak transcription	Stomach Mucosa	stomach
13	chr14:68553200-68556000	Weak transcription	Fetal Intestine Small	intestine
14	chr14:68553400-68555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:68553400-68555400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:68554200-68555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68554200-68555400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:68554600-68556400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:68554800-68555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:68554800-68555200	Active TSS	Fetal Muscle Leg	muscle
21	chr14:68554800-68555600	Enhancers	Dnd41	blood
22	chr14:68554800-68555800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:68554800-68556200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:68554800-68556200	Enhancers	HSMMtube	muscle
25	chr14:68554800-68556400	Enhancers	Fetal Thymus	thymus
26	chr14:68555000-68555200	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr14:68555000-68555200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:68555000-68555200	Enhancers	Adipose Nuclei	Adipose
29	chr14:68555000-68555200	Enhancers	Brain Hippocampus Middle	brain
30	chr14:68555000-68555200	Active TSS	Fetal Brain Female	brain
31	chr14:68555000-68555200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:68555000-68555200	Active TSS	Psoas Muscle	Psoas
33	chr14:68555000-68555200	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:68555000-68555200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr14:68555000-68555400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:68555000-68555400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr14:68555000-68555400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:68555000-68555400	Active TSS	Colon Smooth Muscle	Colon
39	chr14:68555000-68555400	Flanking Active TSS	Fetal Kidney	kidney
40	chr14:68555000-68555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:68555000-68555600	Active TSS	Stomach Smooth Muscle	stomach
42	chr14:68555000-68555800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr14:68555000-68555800	Flanking Active TSS	HSMM	muscle
44	chr14:68555000-68556000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:68555000-68556000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:68555000-68556000	Flanking Active TSS	Fetal Lung	lung
47	chr14:68555000-68556200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:68555000-68556200	Flanking Active TSS	NHEK	skin
49	chr14:68555000-68556400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:68555000-68556400	Enhancers	Primary T cells from cord blood	blood

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