Variant report

Variant	rs554491110
Chromosome Location	chr14:38053400-38053401
allele	-/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114300280..114302664-chr14:38052543..38054233,2	MCF-7	breast:
2	chr14:38052731..38054342-chr14:38064553..38065582,5	MCF-7	breast:
3	chr14:37704717..37707352-chr14:38053028..38056563,4	MCF-7	breast:
4	chr14:38052050..38054072-chr8:119123824..119125742,2	MCF-7	breast:
5	chr14:38052164..38054489-chr14:38155614..38158177,2	MCF-7	breast:
6	chr14:38021477..38023434-chr14:38051873..38053665,2	MCF-7	breast:
7	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:
8	chr14:37697487..37699947-chr14:38052550..38054920,2	MCF-7	breast:
9	chr14:38051959..38054896-chr14:38346073..38349054,2	MCF-7	breast:
10	chr11:62607623..62609133-chr14:38052681..38055666,2	MCF-7	breast:
11	chr14:38052576..38054584-chr20:45987058..45989218,2	MCF-7	breast:
12	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:
13	chr14:38053132..38055336-chr16:8951638..8953945,2	MCF-7	breast:
14	chr14:38053037..38053658-chr14:38063411..38063954,2	MCF-7	breast:
15	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
16	chr14:38052796..38053461-chr20:46130106..46131097,2	MCF-7	breast:
17	chr14:38052799..38056645-chr14:38110576..38115505,4	MCF-7	breast:
18	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
19	chr14:37697471..37699396-chr14:38051501..38053443,2	MCF-7	breast:
20	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
21	chr14:38051074..38053594-chr16:89788190..89790581,2	MCF-7	breast:
22	chr14:38034479..38035462-chr14:38052798..38053592,2	MCF-7	breast:
23	chr11:104787117..104789593-chr14:38053367..38055956,2	MCF-7	breast:
24	chr14:38053183..38055954-chr14:38113662..38116528,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151338	Chromatin interaction
ENSG00000235505	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000182197	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000158805	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38051800-38053600	Active TSS	HepG2	liver
2	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:38052200-38053400	Active TSS	A549	lung
5	chr14:38052200-38053800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:38052200-38054200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr14:38052400-38053400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr14:38052400-38053400	Bivalent/Poised TSS	Small Intestine	intestine
9	chr14:38052400-38053400	Active TSS	Hela-S3	cervix
10	chr14:38052400-38053600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:38052400-38053600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:38052400-38054600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:38052400-38054800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr14:38052400-38054800	Active TSS	Esophagus	oesophagus
15	chr14:38052600-38053400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:38052600-38053400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:38052600-38053400	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr14:38052600-38053600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:38052600-38053600	Enhancers	Pancreas	Pancrea
20	chr14:38052600-38053800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:38052600-38053800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:38052600-38053800	Bivalent Enhancer	Fetal Heart	heart
23	chr14:38052600-38053800	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:38052600-38054200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:38052600-38054200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:38052600-38054400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:38052600-38054400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:38052600-38054400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr14:38052600-38054600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr14:38052600-38054600	Bivalent Enhancer	Fetal Brain Female	brain
31	chr14:38052600-38054800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr14:38052600-38054800	Bivalent Enhancer	Left Ventricle	heart
33	chr14:38052800-38053400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:38052800-38053400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:38052800-38053400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr14:38052800-38053400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr14:38052800-38053400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:38052800-38053400	Flanking Active TSS	Right Atrium	heart
39	chr14:38052800-38053400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr14:38052800-38053400	ZNF genes & repeats	Spleen	Spleen
41	chr14:38052800-38053400	Bivalent/Poised TSS	HSMM	muscle
42	chr14:38052800-38053600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:38052800-38053600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:38052800-38053600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:38052800-38053600	Bivalent/Poised TSS	Right Ventricle	heart
46	chr14:38052800-38053800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr14:38052800-38054200	Bivalent/Poised TSS	NHEK	skin
48	chr14:38052800-38054400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr14:38052800-38054400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:38052800-38054600	Bivalent Enhancer	Brain Hippocampus Middle	brain

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