Variant report

Variant	rs61971523
Chromosome Location	chr14:21839821-21839822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21836067..21840182-chr14:21848186..21853359,8	MCF-7	breast:
2	chr14:21839767..21842102-chr14:21844201..21846958,2	K562	blood:
3	chr14:21836286..21839834-chr14:21849552..21852683,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260830	Chromatin interaction
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs17104027	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17105120	0.94[EUR][1000 genomes]
rs45540636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45618735	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56085953	0.94[EUR][1000 genomes]
rs57254369	0.83[EUR][1000 genomes]
rs57764234	0.81[EUR][1000 genomes]
rs57968228	0.94[EUR][1000 genomes]
rs58673747	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58981052	0.81[EUR][1000 genomes]
rs59578678	1.00[AMR][1000 genomes]
rs60262326	0.81[EUR][1000 genomes]
rs61739513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61752837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61971517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61971518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61971519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61971520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61971521	0.88[EUR][1000 genomes]
rs61971524	0.94[EUR][1000 genomes]
rs61971525	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61973163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973164	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973165	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973169	0.94[EUR][1000 genomes]
rs61973170	0.94[EUR][1000 genomes]
rs61973172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61973173	0.94[EUR][1000 genomes]
rs61973174	0.94[EUR][1000 genomes]
rs61973175	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973178	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973179	0.94[EUR][1000 genomes]
rs61973181	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973182	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973183	0.94[EUR][1000 genomes]
rs61973186	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973189	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973190	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61973191	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973192	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973193	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973210	1.00[AMR][1000 genomes]
rs61977518	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61977520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61977522	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61977523	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61977524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7141803	0.94[EUR][1000 genomes]
rs7160222	0.81[EUR][1000 genomes]
rs8006302	0.81[EUR][1000 genomes]
rs8016474	0.94[EUR][1000 genomes]
rs8021793	0.88[EUR][1000 genomes]
rs8022558	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8023081	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9944063	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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:124 , 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	chr14:21818200-21841200	Strong transcription	Fetal Brain Female	brain
5	chr14:21818600-21841000	Strong transcription	HMEC	breast
6	chr14:21818600-21841200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:21818800-21840600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:21818800-21840800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr14:21818800-21841000	Strong transcription	Brain Anterior Caudate	brain
10	chr14:21818800-21841200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:21818800-21841200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr14:21818800-21841200	Strong transcription	Left Ventricle	heart
13	chr14:21818800-21841400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:21818800-21841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:21818800-21841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:21818800-21841400	Strong transcription	NHEK	skin
17	chr14:21818800-21841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:21818800-21841600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:21818800-21841600	Strong transcription	Fetal Thymus	thymus
20	chr14:21818800-21841600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:21818800-21841600	Strong transcription	HSMM	muscle
22	chr14:21818800-21841800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr14:21818800-21841800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:21818800-21841800	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:21818800-21842800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:21818800-21843200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:21818800-21843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:21818800-21846800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:21818800-21848200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:21819000-21840200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr14:21819000-21840800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:21819000-21841000	Strong transcription	NHDF-Ad	bronchial
33	chr14:21819000-21841200	Strong transcription	NH-A	brain
34	chr14:21819000-21841600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:21819000-21841600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:21819000-21841600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:21819000-21841600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:21819000-21841600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:21819000-21841600	Strong transcription	Placenta	Placenta
40	chr14:21819000-21842600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:21819000-21843400	Strong transcription	Primary T cells from cord blood	blood
42	chr14:21819000-21845400	Strong transcription	Dnd41	blood
43	chr14:21819000-21846200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:21819000-21846600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:21819000-21847200	Strong transcription	HepG2	liver
46	chr14:21819000-21847600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:21819000-21848000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:21819200-21840200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr14:21819200-21840800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr14:21819200-21841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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