Variant report

Variant	rs531787638
Chromosome Location	chr14:38054397-38054398
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37704717..37707352-chr14:38053028..38056563,4	MCF-7	breast:
2	chr14:38054286..38055806-chr14:38336745..38339551,2	MCF-7	breast:
3	chr14:38052164..38054489-chr14:38155614..38158177,2	MCF-7	breast:
4	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:
5	chr14:37697487..37699947-chr14:38052550..38054920,2	MCF-7	breast:
6	chr14:38051959..38054896-chr14:38346073..38349054,2	MCF-7	breast:
7	chr14:38054348..38056983-chr16:85495948..85497819,2	MCF-7	breast:
8	chr11:62607623..62609133-chr14:38052681..38055666,2	MCF-7	breast:
9	chr14:38052576..38054584-chr20:45987058..45989218,2	MCF-7	breast:
10	chr14:38053132..38055336-chr16:8951638..8953945,2	MCF-7	breast:
11	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
12	chr14:38052799..38056645-chr14:38110576..38115505,4	MCF-7	breast:
13	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
14	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
15	chr11:65264612..65267517-chr14:38054268..38055972,2	MCF-7	breast:
16	chr11:104787117..104789593-chr14:38053367..38055956,2	MCF-7	breast:
17	chr14:38053183..38055954-chr14:38113662..38116528,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235505	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:38052400-38054600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:38052400-38054800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr14:38052400-38054800	Active TSS	Esophagus	oesophagus
6	chr14:38052600-38054400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:38052600-38054400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:38052600-38054400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:38052600-38054600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:38052600-38054600	Bivalent Enhancer	Fetal Brain Female	brain
11	chr14:38052600-38054800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr14:38052600-38054800	Bivalent Enhancer	Left Ventricle	heart
13	chr14:38052800-38054400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:38052800-38054400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:38052800-38054600	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr14:38052800-38055600	Bivalent Enhancer	Fetal Lung	lung
17	chr14:38053000-38054800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:38053000-38057600	Weak transcription	Gastric	stomach
19	chr14:38053200-38054600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr14:38053200-38054600	Bivalent Enhancer	HUVEC	blood vessel
21	chr14:38053200-38054800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:38053200-38054800	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr14:38053400-38054400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:38053400-38054400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr14:38053400-38054800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:38053400-38054800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:38053400-38054800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
28	chr14:38053400-38055000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr14:38053400-38062800	Weak transcription	Hela-S3	cervix
30	chr14:38053600-38054400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:38053600-38054600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:38053600-38054600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:38053600-38054800	Enhancers	Lung	lung
34	chr14:38053600-38056200	Enhancers	HepG2	liver
35	chr14:38053800-38054400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr14:38053800-38054600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:38053800-38054600	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr14:38053800-38054600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
39	chr14:38053800-38054600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr14:38053800-38054800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:38053800-38054800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:38053800-38055400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr14:38054000-38054400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:38054000-38054400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:38054000-38054400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:38054000-38054600	Bivalent Enhancer	Placenta	Placenta
47	chr14:38054000-38054600	Enhancers	Ovary	ovary
48	chr14:38054000-38054600	Bivalent Enhancer	Spleen	Spleen
49	chr14:38054000-38054800	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr14:38054000-38055200	Weak transcription	A549	lung

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