Variant report

Variant	rs371169784
Chromosome Location	chr14:55253303-55253304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55031208..55035304-chr14:55253192..55258095,4	K562	blood:
2	chr14:55031577..55034283-chr14:55252159..55255561,3	MCF-7	breast:
3	chr14:55030029..55031723-chr14:55251131..55254123,2	K562	blood:
4	chr14:55252117..55254056-chr14:55258046..55260281,2	K562	blood:
5	chr14:55048694..55051094-chr14:55253283..55255038,2	K562	blood:

Variant related genes	Relation type
ENSG00000020577	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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1004703	chr14:55252382-55256132	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:55241000-55256400	Weak transcription	Ovary	ovary
13	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:55241200-55257600	Weak transcription	K562	blood
18	chr14:55241200-55272200	Weak transcription	A549	lung
19	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:55243600-55253600	Weak transcription	Thymus	Thymus
23	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:55243800-55258000	Strong transcription	HUVEC	blood vessel
26	chr14:55244000-55257400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:55244000-55257400	Strong transcription	NHEK	skin
28	chr14:55244000-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:55244200-55257800	Strong transcription	HSMMtube	muscle
30	chr14:55244200-55258000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:55244200-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:55244400-55256400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:55244400-55259400	Strong transcription	NHLF	lung
34	chr14:55244800-55257800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:55245800-55257400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:55246200-55253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:55246600-55259400	Strong transcription	NHDF-Ad	bronchial
38	chr14:55247000-55257600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:55247200-55258000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr14:55248600-55254800	Genic enhancers	Fetal Intestine Small	intestine
41	chr14:55249600-55255000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr14:55249800-55255200	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:55250000-55253600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:55250000-55258000	Strong transcription	Rectal Smooth Muscle	rectum
45	chr14:55250000-55258800	Weak transcription	Primary B cells from cord blood	blood
46	chr14:55250200-55253600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:55250200-55255400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:55250400-55253400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:55250400-55257800	Strong transcription	Fetal Stomach	stomach
50	chr14:55250600-55258600	Weak transcription	Colonic Mucosa	Colon

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