Variant report

Variant	rs537022923
Chromosome Location	chr14:21992894-21992895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
3	chr14:21977974..21981747-chr14:21991693..21997000,9	MCF-7	breast:
4	chr14:21991104..21993583-chr14:21997557..21999607,2	MCF-7	breast:
5	chr14:21970942..21973868-chr14:21992084..21994345,2	MCF-7	breast:
6	chr14:21904269..21906743-chr14:21992458..21995215,2	K562	blood:
7	chr14:21966582..21968425-chr14:21990390..21992940,3	K562	blood:
8	chr14:21986110..21991599-chr14:21992205..21995667,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000257096	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv522850	chr14:21989841-21998108	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
2	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
3	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:21987200-21993600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:21988000-21994200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:21988400-21993000	Weak transcription	Fetal Thymus	thymus
7	chr14:21988600-21993600	Weak transcription	Right Ventricle	heart
8	chr14:21989200-21993400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21989200-21993400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:21989400-21993200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:21989600-21993000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:21989600-21993400	Genic enhancers	H1 Cell Line	embryonic stem cell
13	chr14:21989800-21993000	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:21989800-21993400	Weak transcription	Fetal Heart	heart
15	chr14:21989800-21993600	Weak transcription	Adipose Nuclei	Adipose
16	chr14:21989800-21994000	Weak transcription	Esophagus	oesophagus
17	chr14:21990000-21993000	Genic enhancers	H9 Cell Line	embryonic stem cell
18	chr14:21990000-21993000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr14:21990000-21993200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:21990000-21993200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:21990000-21993400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:21990000-21993400	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:21990200-21993400	Weak transcription	NH-A	brain
24	chr14:21990200-21993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:21990200-21993600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:21990200-21993600	Weak transcription	HSMM	muscle
27	chr14:21990200-21993600	Weak transcription	NHLF	lung
28	chr14:21990400-21993000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:21990400-21993000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:21990400-21993600	Weak transcription	Pancreas	Pancrea
31	chr14:21990400-21993600	Weak transcription	Osteobl	bone
32	chr14:21990600-21993000	Genic enhancers	Fetal Brain Female	brain
33	chr14:21990600-21993200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:21990600-21993600	Weak transcription	Lung	lung
35	chr14:21990600-21993600	Weak transcription	HSMMtube	muscle
36	chr14:21990600-21993800	Weak transcription	Spleen	Spleen
37	chr14:21990800-21993000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:21990800-21993200	Strong transcription	Fetal Intestine Small	intestine
39	chr14:21990800-21993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:21990800-21993600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:21990800-21993800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
42	chr14:21991000-21993200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:21991000-21993400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:21991200-21993600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:21991400-21993200	Weak transcription	Fetal Brain Male	brain
46	chr14:21991400-21993400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:21991400-21993600	Weak transcription	HepG2	liver
48	chr14:21991600-21993200	Strong transcription	Thymus	Thymus
49	chr14:21991600-21993600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:21991800-21993000	Strong transcription	Dnd41	blood

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