Variant report

Variant	rs4387520
Chromosome Location	chr14:21488998-21488999
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21486608..21489268-chr14:21489291..21491180,2	K562	blood:
2	chr14:21487890..21490586-chr14:21498522..21500630,2	K562	blood:
3	chr14:21485366..21489575-chr14:21491399..21494074,4	K562	blood:
4	chr14:21456741..21458593-chr14:21486846..21489744,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE13-4	chr14:21488522-21489003	NONHSAT035638

Variant related genes	Relation type
ENSG00000258604	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000165792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10151559	1.00[TSI][hapmap]
rs2234638	1.00[TSI][hapmap]
rs2771331	1.00[TSI][hapmap]
rs6413532	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21481600-21490400	Weak transcription	Right Atrium	heart
2	chr14:21482800-21491800	Weak transcription	Small Intestine	intestine
3	chr14:21483000-21491800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:21483200-21491000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:21483400-21490200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:21483400-21491000	Weak transcription	Fetal Brain Male	brain
7	chr14:21483400-21491600	Weak transcription	Stomach Mucosa	stomach
8	chr14:21483400-21492200	Weak transcription	Fetal Kidney	kidney
9	chr14:21483600-21490000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:21483600-21491000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:21483800-21489600	Strong transcription	Fetal Muscle Leg	muscle
12	chr14:21483800-21490600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:21483800-21491400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:21483800-21492200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:21483800-21492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:21484400-21490800	Genic enhancers	Liver	Liver
17	chr14:21484400-21491800	Strong transcription	Fetal Intestine Small	intestine
18	chr14:21484600-21489400	Strong transcription	Brain Angular Gyrus	brain
19	chr14:21484600-21490400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:21484600-21490400	Strong transcription	Fetal Brain Female	brain
21	chr14:21484600-21490400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:21484600-21490600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:21484600-21490800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:21484800-21489000	Strong transcription	Brain Substantia Nigra	brain
25	chr14:21484800-21490000	Strong transcription	Right Ventricle	heart
26	chr14:21484800-21490400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:21484800-21490400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr14:21484800-21490600	Strong transcription	Primary T cells from cord blood	blood
29	chr14:21484800-21490600	Strong transcription	Rectal Smooth Muscle	rectum
30	chr14:21484800-21490800	Genic enhancers	Spleen	Spleen
31	chr14:21485000-21490000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr14:21485000-21490200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:21485000-21490400	Strong transcription	Left Ventricle	heart
34	chr14:21485000-21490800	Strong transcription	Brain Germinal Matrix	brain
35	chr14:21485000-21490800	Strong transcription	Gastric	stomach
36	chr14:21485200-21489600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:21485200-21490000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:21485200-21490400	Strong transcription	Ovary	ovary
39	chr14:21485200-21490600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:21485200-21490800	Strong transcription	Colonic Mucosa	Colon
41	chr14:21485400-21489400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr14:21485400-21491800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:21485600-21489400	Genic enhancers	Placenta Amnion	Placenta Amnion
44	chr14:21485600-21490400	Strong transcription	Pancreas	Pancrea
45	chr14:21485600-21491000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:21485600-21491400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:21485800-21490200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:21485800-21490200	Strong transcription	Lung	lung
49	chr14:21485800-21490600	Strong transcription	Aorta	Aorta
50	chr14:21486000-21489000	Weak transcription	Placenta	Placenta

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