Variant report

Variant	rs3745228
Chromosome Location	chr19:42585112-42585113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42584186-42585488	A549	lung:	n/a	n/a
2	POLR2A	chr19:42584956-42585576	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:42583992-42586924	K562	blood:	n/a	n/a
4	POLR2A	chr19:42584898-42585113	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:42583521-42586597	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:42584852-42586106	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr19:42584986-42585390	A549	lung:	n/a	n/a
8	POLR2A	chr19:42584712-42585405	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:42584855-42585176	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:42584369-42585445	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:42585090-42585312	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:42584270-42585490	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr19:42584206-42585439	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:42583286-42585524	K562	blood:	n/a	n/a
15	CTCF	chr19:42585034-42586622	A549	lung:	n/a	n/a
16	POLR2A	chr19:42585029-42586499	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:42584631-42585567	GM12891	blood:	n/a	n/a
18	POLR2A	chr19:42584330-42585242	A549	lung:	n/a	n/a
19	POLR2A	chr19:42584091-42586551	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:42584754-42585488	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr19:42584189-42585469	A549	lung:	n/a	n/a
22	POLR2A	chr19:42584218-42585489	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:42584085-42586585	K562	blood:	n/a	n/a
24	POLR2A	chr19:42584988-42585769	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:42585032-42585394	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42583843..42585623-chr19:42905148..42907036,2	MCF-7	breast:
2	chr19:42554804..42557504-chr19:42584494..42586137,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268525	TF binding region
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11668239	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs3745226	1.00[MEX][hapmap]
rs3745227	1.00[CHB][hapmap];1.00[MEX][hapmap]

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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 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	chr19:42582000-42585400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42582000-42587800	Weak transcription	Fetal Kidney	kidney
3	chr19:42582000-42590400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:42582200-42585600	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:42582200-42586600	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr19:42582200-42587200	Strong transcription	Fetal Muscle Leg	muscle
7	chr19:42582200-42588400	Strong transcription	Lung	lung
8	chr19:42582200-42596000	Weak transcription	Right Atrium	heart
9	chr19:42582200-42597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:42582400-42585400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:42582400-42585600	Strong transcription	Fetal Intestine Large	intestine
12	chr19:42582400-42585600	Genic enhancers	Spleen	Spleen
13	chr19:42582400-42585800	Strong transcription	Fetal Intestine Small	intestine
14	chr19:42582400-42586000	Strong transcription	Liver	Liver
15	chr19:42582400-42586200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:42582400-42586200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:42582400-42586400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:42582400-42586400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:42582400-42586400	Strong transcription	Primary T cells from cord blood	blood
20	chr19:42582400-42586600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42582400-42586600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:42582400-42586600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:42582400-42586600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:42582400-42586600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:42582400-42586600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:42582400-42586600	Strong transcription	Brain Angular Gyrus	brain
27	chr19:42582400-42586600	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:42582400-42586600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr19:42582400-42586600	Strong transcription	Fetal Thymus	thymus
30	chr19:42582400-42586600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:42582400-42588200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:42582400-42588400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:42582400-42588800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:42582400-42588800	Strong transcription	Fetal Stomach	stomach
35	chr19:42582400-42592800	Weak transcription	HSMMtube	muscle
36	chr19:42582400-42594000	Weak transcription	Fetal Brain Male	brain
37	chr19:42582400-42594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:42582400-42595600	Weak transcription	Fetal Heart	heart
39	chr19:42582400-42595800	Weak transcription	Hela-S3	cervix
40	chr19:42582400-42597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:42582600-42585400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:42582600-42585600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:42582600-42586000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr19:42582600-42586000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:42582600-42586000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr19:42582600-42586000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:42582600-42586000	Strong transcription	Gastric	stomach
48	chr19:42582600-42586000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr19:42582600-42586200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:42582600-42586200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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