Variant report

Variant	rs61971524
Chromosome Location	chr14:21842814-21842815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21840647..21843149-chr14:21872744..21875426,2	K562	blood:
2	chr14:21708563..21711469-chr14:21841010..21843260,2	K562	blood:
3	chr14:21840421..21844645-chr14:21849472..21852747,5	K562	blood:
4	chr14:21836694..21838844-chr14:21842730..21845321,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs17104027	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17105120	1.00[EUR][1000 genomes]
rs45540636	0.88[EUR][1000 genomes]
rs45618735	0.88[EUR][1000 genomes]
rs56085953	1.00[EUR][1000 genomes]
rs57254369	0.89[EUR][1000 genomes]
rs57764234	0.88[EUR][1000 genomes]
rs57968228	1.00[EUR][1000 genomes]
rs58673747	0.81[EUR][1000 genomes]
rs58981052	0.88[EUR][1000 genomes]
rs60262326	0.88[EUR][1000 genomes]
rs61739513	0.88[EUR][1000 genomes]
rs61752837	0.94[EUR][1000 genomes]
rs61971517	0.88[EUR][1000 genomes]
rs61971518	0.88[EUR][1000 genomes]
rs61971519	0.82[EUR][1000 genomes]
rs61971520	0.88[EUR][1000 genomes]
rs61971521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61971523	0.94[EUR][1000 genomes]
rs61971525	0.94[EUR][1000 genomes]
rs61973163	1.00[EUR][1000 genomes]
rs61973164	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61973165	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61973169	1.00[EUR][1000 genomes]
rs61973170	1.00[EUR][1000 genomes]
rs61973172	0.94[EUR][1000 genomes]
rs61973173	1.00[EUR][1000 genomes]
rs61973174	1.00[EUR][1000 genomes]
rs61973175	1.00[EUR][1000 genomes]
rs61973178	1.00[EUR][1000 genomes]
rs61973179	1.00[EUR][1000 genomes]
rs61973181	1.00[EUR][1000 genomes]
rs61973182	1.00[EUR][1000 genomes]
rs61973183	1.00[EUR][1000 genomes]
rs61973186	0.88[EUR][1000 genomes]
rs61973188	0.81[EUR][1000 genomes]
rs61973189	0.81[EUR][1000 genomes]
rs61973191	0.81[EUR][1000 genomes]
rs61973192	0.81[EUR][1000 genomes]
rs61973193	0.81[EUR][1000 genomes]
rs61977518	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61977520	0.88[EUR][1000 genomes]
rs61977522	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61977523	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61977524	0.88[EUR][1000 genomes]
rs7141803	1.00[EUR][1000 genomes]
rs7160222	0.88[EUR][1000 genomes]
rs8006302	0.88[EUR][1000 genomes]
rs8016474	1.00[EUR][1000 genomes]
rs8021793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8022558	1.00[EUR][1000 genomes]
rs8023081	1.00[EUR][1000 genomes]
rs9944063	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21818000-21843000	Strong transcription	A549	lung
2	chr14:21818000-21848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21818800-21843200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:21818800-21843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:21818800-21846800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:21818800-21848200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:21819000-21843400	Strong transcription	Primary T cells from cord blood	blood
9	chr14:21819000-21845400	Strong transcription	Dnd41	blood
10	chr14:21819000-21846200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:21819000-21846600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:21819000-21847200	Strong transcription	HepG2	liver
13	chr14:21819000-21847600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:21819000-21848000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:21819600-21847600	Strong transcription	Hela-S3	cervix
16	chr14:21821200-21845600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:21821400-21846800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:21824400-21851000	Weak transcription	Stomach Mucosa	stomach
19	chr14:21834400-21843400	Strong transcription	GM12878-XiMat	blood
20	chr14:21836600-21851200	Weak transcription	Pancreas	Pancrea
21	chr14:21836600-21851400	Weak transcription	Gastric	stomach
22	chr14:21836600-21851400	Weak transcription	Spleen	Spleen
23	chr14:21836800-21851200	Weak transcription	Aorta	Aorta
24	chr14:21837200-21851200	Weak transcription	Small Intestine	intestine
25	chr14:21838000-21851200	Weak transcription	Lung	lung
26	chr14:21838200-21850200	Weak transcription	Fetal Heart	heart
27	chr14:21838400-21847400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:21838400-21848600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:21838400-21848800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:21838400-21849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:21838400-21850200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:21838600-21848600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:21838600-21849000	Weak transcription	Fetal Brain Male	brain
34	chr14:21838600-21850000	Weak transcription	Brain Substantia Nigra	brain
35	chr14:21839200-21851000	Weak transcription	Right Ventricle	heart
36	chr14:21839600-21845800	Weak transcription	Fetal Intestine Small	intestine
37	chr14:21839600-21845800	Weak transcription	Fetal Stomach	stomach
38	chr14:21839600-21847400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:21839600-21851000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:21839600-21851000	Weak transcription	Thymus	Thymus
41	chr14:21839600-21851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:21839600-21851200	Weak transcription	Esophagus	oesophagus
43	chr14:21839800-21849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:21840200-21848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:21840200-21851000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:21840200-21851000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:21840400-21850200	Weak transcription	Brain Germinal Matrix	brain
48	chr14:21840400-21850600	Weak transcription	Fetal Kidney	kidney
49	chr14:21840600-21851200	Weak transcription	Colonic Mucosa	Colon
50	chr14:21840600-21851200	Weak transcription	Placenta Amnion	Placenta Amnion

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