Variant report

Variant	rs17445381
Chromosome Location	chr19:21326880-21326881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21264016..21266575-chr19:21326485..21328797,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10406253	0.90[CEU][hapmap]
rs11881107	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052171	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151204	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16997503	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17445374	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2115498	0.95[CEU][hapmap]
rs57941450	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58095420	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59436607	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60870377	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511202	0.95[CEU][hapmap]
rs6511204	0.95[CEU][hapmap]
rs6511205	0.95[CEU][hapmap]
rs67716442	0.82[EUR][1000 genomes]
rs7256860	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028563	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028565	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028577	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8101918	0.94[CEU][hapmap]
rs995655	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases
17	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21328000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:21325400-21328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:21325400-21328200	Weak transcription	Left Ventricle	heart
4	chr19:21325400-21329400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:21325400-21330000	Weak transcription	Colonic Mucosa	Colon
6	chr19:21325400-21332400	Weak transcription	Gastric	stomach
7	chr19:21325400-21332600	Weak transcription	Spleen	Spleen
8	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
9	chr19:21325600-21334200	Weak transcription	Psoas Muscle	Psoas
10	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:21325800-21327000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr19:21325800-21327000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:21325800-21327000	Flanking Active TSS	Hela-S3	cervix
14	chr19:21325800-21330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:21325800-21332400	Weak transcription	Liver	Liver
16	chr19:21325800-21332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:21325800-21332600	Weak transcription	Brain Substantia Nigra	brain
18	chr19:21326000-21327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:21326000-21327400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:21326000-21327800	Weak transcription	Primary T cells from cord blood	blood
21	chr19:21326000-21328000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:21326000-21328400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:21326000-21328400	Weak transcription	NHLF	lung
24	chr19:21326000-21328600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:21326000-21329200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:21326000-21329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:21326000-21329400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:21326000-21329400	Weak transcription	Fetal Brain Male	brain
29	chr19:21326000-21329600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:21326000-21329600	Weak transcription	Fetal Heart	heart
31	chr19:21326000-21329600	Weak transcription	Lung	lung
32	chr19:21326000-21330000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr19:21326000-21330200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:21326000-21330400	Weak transcription	Right Atrium	heart
35	chr19:21326000-21331400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:21326000-21332400	Weak transcription	Brain Anterior Caudate	brain
37	chr19:21326000-21332600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:21326000-21332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:21326000-21332800	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:21326000-21337000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:21326000-21338400	Weak transcription	Aorta	Aorta
42	chr19:21326000-21352600	Weak transcription	Right Ventricle	heart
43	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:21326200-21327000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:21326200-21327000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr19:21326200-21327000	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr19:21326200-21327000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr19:21326200-21327000	ZNF genes & repeats	A549	lung
49	chr19:21326200-21327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:21326200-21328200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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