Variant report

Variant	rs8103672
Chromosome Location	chr19:56631317-56631318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56629557..56632352-chr19:56654228..56656025,2	K562	blood:
2	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
3	chr19:56629872..56632038-chr19:56819906..56821500,2	MCF-7	breast:
4	chr19:56629808..56631953-chr19:56643126..56645330,2	K562	blood:
5	chr19:56630500..56632010-chr19:56658354..56660515,2	MCF-7	breast:
6	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
7	chr19:56629593..56636020-chr19:56650029..56654099,17	K562	blood:
8	chr19:56629946..56632652-chr19:56657182..56659175,2	K562	blood:
9	chr19:56630318..56632496-chr21:46494292..46496510,2	K562	blood:
10	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
11	chr19:55626838..55628634-chr19:56630662..56632626,2	MCF-7	breast:
12	chr19:56629593..56635165-chr19:56650391..56656450,20	K562	blood:
13	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
14	chr19:56630861..56631692-chr2:122288387..122288901,2	HCT-116	colon:
15	chr19:56605498..56607205-chr19:56630684..56632400,2	K562	blood:
16	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000018869	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1007851	0.81[ASN][1000 genomes]
rs11673628	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12981138	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12983086	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450439	0.84[ASN][1000 genomes]
rs2631625	0.82[ASN][1000 genomes]
rs2631627	0.85[ASN][1000 genomes]
rs2631628	0.85[ASN][1000 genomes]
rs2631631	0.86[ASN][1000 genomes]
rs2631637	0.86[ASN][1000 genomes]
rs2631640	0.81[ASN][1000 genomes]
rs2637092	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2637094	0.84[ASN][1000 genomes]
rs2637097	0.87[ASN][1000 genomes]
rs2637114	0.82[ASN][1000 genomes]
rs2932757	0.85[ASN][1000 genomes]
rs35766803	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473953	0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs478402	0.86[ASN][1000 genomes]
rs4801294	0.87[ASN][1000 genomes]
rs4801676	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490345	0.85[ASN][1000 genomes]
rs497453	0.82[ASN][1000 genomes]
rs504350	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs506547	0.84[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs506986	0.90[TSI][hapmap]
rs517021	0.81[ASN][1000 genomes]
rs524778	0.83[ASN][1000 genomes]
rs524829	0.83[ASN][1000 genomes]
rs524988	0.84[ASN][1000 genomes]
rs525827	0.84[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs527715	0.86[ASN][1000 genomes]
rs540900	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs546082	0.87[GIH][hapmap];1.00[TSI][hapmap]
rs547945	0.85[JPT][hapmap]
rs562907	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs569310	0.82[ASN][1000 genomes]
rs572851	0.85[ASN][1000 genomes]
rs578990	0.84[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs578991	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs583330	0.87[ASN][1000 genomes]
rs588574	0.86[JPT][hapmap]
rs592827	0.86[ASN][1000 genomes]
rs599405	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs609736	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs619934	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs626821	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs629544	0.86[ASN][1000 genomes]
rs640654	0.87[ASN][1000 genomes]
rs643133	0.84[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs643174	0.84[ASN][1000 genomes]
rs6509982	0.81[ASN][1000 genomes]
rs659424	0.84[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs662308	0.85[ASN][1000 genomes]
rs662763	0.82[ASN][1000 genomes]
rs665082	0.85[ASN][1000 genomes]
rs665857	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs667438	0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs667974	0.83[ASN][1000 genomes]
rs669866	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs672824	0.87[GIH][hapmap];1.00[TSI][hapmap]
rs677127	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs678540	0.85[ASN][1000 genomes]
rs684653	0.84[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs685117	0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs9676765	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][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	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
15	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1811581	chr19:56609313-56631618	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	esv3331653	chr19:56631165-56634013	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56623000-56631400	Genic enhancers	Spleen	Spleen
2	chr19:56624200-56631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:56628000-56631600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:56628200-56631400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:56628800-56631400	Enhancers	Lung	lung
6	chr19:56629000-56631400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr19:56629400-56631800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:56629800-56631600	Enhancers	Fetal Heart	heart
9	chr19:56630000-56631800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:56630000-56631800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:56630200-56631400	Enhancers	Thymus	Thymus
12	chr19:56630200-56631600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr19:56630200-56631600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:56630200-56631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:56630400-56631400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:56630400-56631400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:56630400-56631400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr19:56630400-56631400	Transcr. at gene 5' and 3'	A549	lung
19	chr19:56630400-56631600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:56630400-56631600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:56630400-56631600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr19:56630400-56631600	Flanking Active TSS	Liver	Liver
23	chr19:56630400-56631600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:56630400-56631600	Flanking Active TSS	Right Ventricle	heart
25	chr19:56630400-56631600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr19:56630400-56631600	Flanking Active TSS	HMEC	breast
27	chr19:56630400-56631800	Flanking Active TSS	Colonic Mucosa	Colon
28	chr19:56630400-56631800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr19:56630400-56632000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:56630400-56632000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:56630400-56632000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:56630600-56631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:56630600-56631400	Weak transcription	Ovary	ovary
34	chr19:56630600-56631400	Flanking Active TSS	HSMM	muscle
35	chr19:56630600-56631400	Transcr. at gene 5' and 3'	K562	blood
36	chr19:56630600-56631600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:56630600-56631600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:56630600-56631600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr19:56630600-56631600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr19:56630600-56631600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr19:56630600-56631600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr19:56630600-56631600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr19:56630800-56631400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:56630800-56631400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:56630800-56631400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr19:56630800-56631400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr19:56630800-56631400	Enhancers	Primary T cells from cord blood	blood
48	chr19:56630800-56631400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr19:56630800-56631400	Flanking Active TSS	NH-A	brain
50	chr19:56630800-56631600	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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