Variant report

Variant	rs6511016
Chromosome Location	chr19:19169904-19169905
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr19:19169798-19172492	K562	blood:	n/a	chr19:19169852-19169867
2	POLR2A	chr19:19169728-19171502	K562	blood:	n/a	n/a
3	POLR2A	chr19:19169748-19172022	K562	blood:	n/a	n/a
4	POLR2A	chr19:19169600-19172516	K562	blood:	n/a	n/a
5	POLR2A	chr19:19169816-19171544	SK-N-MC	brain:	n/a	n/a
6	ZBTB7A	chr19:19169729-19170268	K562	blood:	n/a	n/a
7	POLR2A	chr19:19169764-19172593	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19110088..19110589-chr19:19169898..19170625,2	MCF-7	breast:
2	chr19:19143822..19146431-chr19:19167618..19170858,3	K562	blood:
3	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
4	chr19:19110088..19110909-chr19:19169898..19170757,5	MCF-7	breast:
5	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
6	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

No data

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000064545	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4808166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808192	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	34 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	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
3	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
4	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
6	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
7	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
16	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:19156600-19172800	Strong transcription	Dnd41	blood
23	chr19:19159600-19170800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:19159800-19170400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:19159800-19170800	Strong transcription	Primary T cells from cord blood	blood
26	chr19:19159800-19170800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:19159800-19171400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:19160200-19170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:19160200-19171000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:19160200-19172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:19160400-19170800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:19160400-19173000	Strong transcription	Thymus	Thymus
33	chr19:19160400-19173600	Strong transcription	Fetal Brain Female	brain
34	chr19:19161000-19170600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19161000-19170800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:19161000-19170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:19161000-19170800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:19161200-19170000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:19161600-19170600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:19161600-19170600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:19161600-19170800	Strong transcription	Brain Angular Gyrus	brain
42	chr19:19161600-19171200	Strong transcription	Spleen	Spleen
43	chr19:19161600-19172400	Strong transcription	NHLF	lung
44	chr19:19161800-19172800	Strong transcription	Brain Germinal Matrix	brain
45	chr19:19162000-19170000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:19162000-19170800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:19162000-19171000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:19162000-19171200	Strong transcription	Esophagus	oesophagus
49	chr19:19162000-19173000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:19162400-19170400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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