Variant report

Variant	rs73612891
Chromosome Location	chr19:56107351-56107352
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	chr19:56107031..56108826-chr19:56115985..56118157,2	K562	blood:
2	chr19:56096999..56099797-chr19:56105951..56108003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs498199	0.88[AFR][1000 genomes]
rs59356833	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS 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	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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	chr19:56098800-56109800	Weak transcription	Fetal Heart	heart
2	chr19:56099200-56110000	Weak transcription	Right Atrium	heart
3	chr19:56099800-56110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:56099800-56110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:56100000-56109800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:56102000-56109800	Strong transcription	Fetal Stomach	stomach
7	chr19:56102600-56109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:56102600-56109200	Strong transcription	Fetal Brain Female	brain
9	chr19:56102600-56109200	Strong transcription	Fetal Thymus	thymus
10	chr19:56102600-56109800	Strong transcription	Fetal Intestine Small	intestine
11	chr19:56102800-56107800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr19:56102800-56108600	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:56102800-56108600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:56102800-56109000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:56102800-56109000	Strong transcription	Primary T cells from cord blood	blood
16	chr19:56102800-56109000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr19:56102800-56109000	Strong transcription	Placenta	Placenta
18	chr19:56102800-56109000	Strong transcription	Ovary	ovary
19	chr19:56102800-56109200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:56102800-56109200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:56102800-56109200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:56102800-56109200	Strong transcription	Adipose Nuclei	Adipose
23	chr19:56102800-56109200	Strong transcription	Fetal Intestine Large	intestine
24	chr19:56102800-56109200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr19:56102800-56109400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:56102800-56109600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:56102800-56110600	Weak transcription	Stomach Mucosa	stomach
28	chr19:56103000-56108000	Strong transcription	Brain Anterior Caudate	brain
29	chr19:56103000-56108000	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:56103000-56109000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:56103000-56109000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:56103000-56109200	Strong transcription	Liver	Liver
33	chr19:56103000-56109200	Strong transcription	Thymus	Thymus
34	chr19:56103000-56109400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:56103000-56109600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:56103000-56109600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:56103200-56108000	Strong transcription	Brain Angular Gyrus	brain
38	chr19:56103200-56108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:56103200-56109600	Weak transcription	Brain Substantia Nigra	brain
40	chr19:56103400-56108000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:56103400-56108800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:56103400-56108800	Strong transcription	A549	lung
43	chr19:56103400-56109000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:56103400-56109000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:56103400-56109000	Strong transcription	Spleen	Spleen
46	chr19:56103400-56109200	Strong transcription	Left Ventricle	heart
47	chr19:56103400-56109200	Strong transcription	Pancreas	Pancrea
48	chr19:56103400-56109200	Strong transcription	Dnd41	blood
49	chr19:56103400-56109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:56103400-56109600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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