Variant report

Variant	rs549292632
Chromosome Location	chr14:31502637-31502638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31500890..31503560-chr14:31504329..31508150,5	K562	blood:
2	chr14:31498429..31503635-chr14:31504922..31508361,9	K562	blood:
3	chr14:31492981..31498080-chr14:31499700..31503641,8	MCF-7	breast:
4	chr14:31500766..31503051-chr14:31511227..31514419,3	MCF-7	breast:
5	chr14:31499033..31500685-chr14:31501316..31504225,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496600-31505800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:31496600-31507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
5	chr14:31496800-31505800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:31496800-31507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:31496800-31507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:31496800-31508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:31496800-31508600	Weak transcription	Lung	lung
10	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
11	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
12	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
15	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:31497000-31502800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:31497000-31505800	Weak transcription	Fetal Stomach	stomach
18	chr14:31497000-31506200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:31497000-31506400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:31497000-31507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
24	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
25	chr14:31497200-31509200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31497400-31512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:31497600-31502800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:31497600-31502800	Weak transcription	NHDF-Ad	bronchial
29	chr14:31497600-31507200	Weak transcription	Fetal Intestine Small	intestine
30	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:31500000-31504200	Enhancers	Hela-S3	cervix
32	chr14:31500400-31503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:31500400-31503800	Enhancers	HMEC	breast
34	chr14:31500600-31503800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:31501000-31506200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:31501200-31502800	Weak transcription	Small Intestine	intestine
37	chr14:31501200-31502800	Weak transcription	HUVEC	blood vessel
38	chr14:31501200-31502800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:31501200-31503000	Weak transcription	NH-A	brain
40	chr14:31501200-31503800	Enhancers	NHEK	skin
41	chr14:31501200-31507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:31501200-31507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:31501200-31512800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:31501200-31514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
48	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:31501400-31511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:31501600-31502800	Enhancers	Liver	Liver

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