Variant report

Variant	rs56310944
Chromosome Location	chr19:37187883-37187884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37177479..37179170-chr19:37187073..37188900,2	MCF-7	breast:
2	chr19:37178528..37181620-chr19:37184427..37188205,4	MCF-7	breast:
3	chr19:37176901..37179127-chr19:37187369..37189594,2	K562	blood:

Variant related genes	Relation type
ENSG00000189042	Chromatin interaction
ENSG00000225975	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1986078	0.90[AFR][1000 genomes]
rs55824249	0.90[AFR][1000 genomes]
rs56058263	0.90[AFR][1000 genomes]
rs56705203	1.00[AFR][1000 genomes]
rs57979220	0.90[AFR][1000 genomes]
rs59181027	0.90[AFR][1000 genomes]
rs59185276	0.90[AFR][1000 genomes]
rs73928564	0.90[AFR][1000 genomes]
rs73929168	1.00[AFR][1000 genomes]
rs73931035	0.90[AFR][1000 genomes]
rs73931630	0.90[AFR][1000 genomes]
rs73931638	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic 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	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37179400-37188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:37179400-37188800	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:37179400-37194800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:37179400-37199200	Weak transcription	Fetal Heart	heart
5	chr19:37179600-37194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:37179800-37188800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37179800-37188800	ZNF genes & repeats	Liver	Liver
10	chr19:37179800-37188800	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:37179800-37189000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:37179800-37189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:37179800-37189200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:37180000-37189200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:37180200-37188400	Strong transcription	Placenta	Placenta
16	chr19:37180200-37188800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:37180200-37189000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:37180400-37188000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:37180400-37188200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:37180400-37188800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:37180400-37188800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:37180600-37188800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37181600-37188200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr19:37181600-37188800	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:37181600-37188800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:37181800-37188600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:37181800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:37183600-37188800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:37183600-37203200	Weak transcription	K562	blood
30	chr19:37183800-37189000	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr19:37184000-37194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:37184200-37188800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:37184400-37188400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:37184400-37194600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:37184400-37199000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:37185000-37188800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:37185000-37189200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr19:37185200-37188800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr19:37185200-37188800	ZNF genes & repeats	A549	lung
40	chr19:37185600-37188400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:37185800-37188800	ZNF genes & repeats	Fetal Lung	lung
42	chr19:37186000-37188800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr19:37186000-37190000	Weak transcription	Hela-S3	cervix
44	chr19:37186000-37194600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:37186200-37188600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:37186200-37189400	Weak transcription	Fetal Thymus	thymus
47	chr19:37186400-37188000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:37186400-37188800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:37186400-37188800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:37186400-37189000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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