Variant report

Variant	rs157587
Chromosome Location	chr19:45398206-45398207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45397940-45398644	HL-60	blood:	n/a	n/a
2	POLR2A	chr19:45397861-45398212	K562	blood:	n/a	n/a
3	POLR2A	chr19:45397812-45398758	K562	blood:	n/a	n/a
4	POLR2A	chr19:45398073-45398266	K562	blood:	n/a	n/a
5	POLR2A	chr19:45397973-45398470	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:45398148-45398348	K562	blood:	n/a	n/a
7	POLR2A	chr19:45397911-45398403	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:45397805-45398769	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:45398035-45398354	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45396736..45399323-chr19:45457886..45459782,2	MCF-7	breast:
2	chr19:45384987..45387230-chr19:45396405..45398635,2	MCF-7	breast:
3	chr19:45345831..45348062-chr19:45397817..45399940,2	K562	blood:
4	chr19:45397986..45400819-chr19:45454940..45458624,4	K562	blood:
5	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267282	TF binding region
ENSG00000267114	Chromatin interaction
ENSG00000130203	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs166907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs394819	1.00[ASN][1000 genomes]
rs417357	1.00[ASN][1000 genomes]
rs434132	1.00[ASN][1000 genomes]
rs435380	1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[ASN][1000 genomes]
rs490243	1.00[ASN][1000 genomes]
rs491153	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45395600-45398600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:45395800-45399200	Weak transcription	Fetal Kidney	kidney
3	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:45396000-45398400	Weak transcription	Fetal Brain Male	brain
5	chr19:45396000-45399000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:45396000-45399200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:45396000-45399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:45396000-45399800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:45396000-45400600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:45396000-45400600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:45396000-45401800	Strong transcription	Brain Anterior Caudate	brain
12	chr19:45396000-45401800	Strong transcription	Thymus	Thymus
13	chr19:45396000-45402200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr19:45396000-45402800	Weak transcription	NHDF-Ad	bronchial
15	chr19:45396000-45404400	Strong transcription	Rectal Smooth Muscle	rectum
16	chr19:45396000-45406200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:45396000-45406200	Strong transcription	Ovary	ovary
18	chr19:45396000-45406400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:45396000-45406400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:45396000-45406400	Strong transcription	Fetal Thymus	thymus
21	chr19:45396000-45406400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr19:45396000-45406600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:45396000-45406800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:45396000-45406800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:45396000-45406800	Strong transcription	Fetal Intestine Large	intestine
26	chr19:45396000-45406800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:45396000-45407000	Weak transcription	Stomach Mucosa	stomach
28	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:45396200-45398800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:45396200-45399600	Weak transcription	Right Atrium	heart
31	chr19:45396200-45400000	Strong transcription	HSMM	muscle
32	chr19:45396200-45401000	Strong transcription	HUVEC	blood vessel
33	chr19:45396200-45401600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:45396200-45401800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:45396200-45401800	Strong transcription	Adipose Nuclei	Adipose
36	chr19:45396200-45401800	Strong transcription	Left Ventricle	heart
37	chr19:45396200-45401800	Strong transcription	Osteobl	bone
38	chr19:45396200-45402000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:45396200-45402000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:45396200-45402000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:45396200-45402000	Strong transcription	Fetal Brain Female	brain
42	chr19:45396200-45404400	Strong transcription	Brain Angular Gyrus	brain
43	chr19:45396200-45404600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:45396200-45405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:45396200-45406200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:45396200-45406400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr19:45396200-45406400	Strong transcription	Primary T cells from cord blood	blood
48	chr19:45396200-45406400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr19:45396200-45406400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:45396200-45406400	Strong transcription	Esophagus	oesophagus

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