Variant report

Variant	rs74034604
Chromosome Location	chr14:21266843-21266844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21265679..21267970-chr14:21270437..21272285,2	K562	blood:
2	chr14:21265467..21267139-chr14:21269113..21271145,2	K562	blood:
3	chr14:21266492..21268540-chr14:21287443..21289663,2	K562	blood:

Variant related genes	Relation type
ENSG00000129538	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17096637	1.00[EUR][1000 genomes]
rs17096638	1.00[EUR][1000 genomes]
rs2245824	1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	1.00[EUR][1000 genomes]
rs2771333	1.00[EUR][1000 genomes]
rs2783790	1.00[EUR][1000 genomes]
rs35226165	1.00[EUR][1000 genomes]
rs4982366	1.00[EUR][1000 genomes]
rs56928205	1.00[EUR][1000 genomes]
rs57459416	1.00[EUR][1000 genomes]
rs57763153	1.00[EUR][1000 genomes]
rs58418541	1.00[EUR][1000 genomes]
rs58984932	1.00[EUR][1000 genomes]
rs59183792	1.00[EUR][1000 genomes]
rs59793479	1.00[EUR][1000 genomes]
rs59845330	1.00[EUR][1000 genomes]
rs60909508	1.00[EUR][1000 genomes]
rs73574048	1.00[EUR][1000 genomes]
rs73574054	1.00[EUR][1000 genomes]
rs73576004	1.00[EUR][1000 genomes]
rs73582001	1.00[EUR][1000 genomes]
rs74034609	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21251000-21267800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:21252400-21267800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:21256400-21268000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:21259200-21268200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:21260200-21267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:21261800-21267200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:21263000-21267800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:21263200-21267400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:21263200-21267600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:21263200-21267800	Weak transcription	Brain Angular Gyrus	brain
11	chr14:21263400-21267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:21263400-21267800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr14:21264800-21268000	Weak transcription	Colonic Mucosa	Colon
14	chr14:21265400-21267400	Enhancers	Brain Substantia Nigra	brain
15	chr14:21265400-21267400	Enhancers	Fetal Heart	heart
16	chr14:21265400-21267800	Enhancers	Brain Anterior Caudate	brain
17	chr14:21265400-21267800	Enhancers	Brain Hippocampus Middle	brain
18	chr14:21265400-21268000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:21266000-21267400	Enhancers	Lung	lung
20	chr14:21266000-21267600	Enhancers	Right Ventricle	heart
21	chr14:21266000-21267800	Enhancers	Left Ventricle	heart
22	chr14:21266000-21267800	Enhancers	Stomach Mucosa	stomach
23	chr14:21266000-21267800	Enhancers	Spleen	Spleen
24	chr14:21266000-21268000	Enhancers	Fetal Thymus	thymus
25	chr14:21266000-21268200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:21266000-21268200	Enhancers	Gastric	stomach
27	chr14:21266000-21270000	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:21266000-21270400	Enhancers	GM12878-XiMat	blood
29	chr14:21266200-21269200	Enhancers	Primary B cells from cord blood	blood
30	chr14:21266400-21267200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:21266400-21267800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:21266400-21268000	Enhancers	Thymus	Thymus
33	chr14:21266600-21267000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr14:21266600-21267600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:21266600-21267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:21266600-21267800	Enhancers	Fetal Stomach	stomach
37	chr14:21266600-21267800	Enhancers	HUVEC	blood vessel
38	chr14:21266600-21268000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:21266600-21268200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:21266600-21268600	Enhancers	Primary T cells from cord blood	blood
41	chr14:21266600-21270200	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:21266600-21270400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:21266600-21271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:21266600-21271400	Flanking Active TSS	K562	blood
45	chr14:21266800-21267000	Enhancers	Placenta	Placenta
46	chr14:21266800-21267200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:21266800-21267200	Enhancers	Adipose Nuclei	Adipose
48	chr14:21266800-21267400	Enhancers	Brain Cingulate Gyrus	brain
49	chr14:21266800-21267800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:21266800-21268000	Enhancers	Pancreas	Pancrea

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