Variant report

Variant	rs1081101
Chromosome Location	chr19:45408077-45408078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45408060-45408210	HMEC	breast:	n/a	n/a
2	CTCF	chr19:45408070-45408214	GM19240	blood:	n/a	n/a
3	CEBPD	chr19:45407893-45408232	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:45406941-45408344	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:45406899-45408444	K562	blood:	n/a	n/a
6	TEAD4	chr19:45407762-45408444	K562	blood:	n/a	n/a
7	CTCF	chr19:45407892-45408425	K562	blood:	n/a	n/a
8	SMC3	chr19:45407772-45408304	HepG2	liver:	n/a	n/a
9	RAD21	chr19:45406697-45408353	SK-N-SH	brain:	n/a	chr19:45407031-45407045 chr19:45407033-45407046 chr19:45407030-45407049 chr19:45407552-45407562 chr19:45407035-45407045
10	POLR2A	chr19:45406691-45408427	U87	brain:	n/a	n/a
11	POLR2A	chr19:45406564-45408390	GM12892	blood:	n/a	n/a
12	CTCF	chr19:45408000-45408150	SAEC	small airway:	n/a	n/a
13	POLR2A	chr19:45406891-45408399	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:45406480-45408437	K562	blood:	n/a	n/a
15	ATF3	chr19:45406734-45408364	A549	lung:	n/a	n/a
16	POLR2A	chr19:45407032-45408307	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:45406913-45408343	K562	blood:	n/a	n/a
18	CTCF	chr19:45408060-45408210	GM12874	blood:	n/a	n/a
19	CTCF	chr19:45408060-45408210	GM12866	blood:	n/a	n/a
20	CTCF	chr19:45407996-45408315	K562	blood:	n/a	n/a
21	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
22	POLR2A	chr19:45406960-45408299	GM12891	blood:	n/a	n/a
23	TEAD4	chr19:45407476-45408392	K562	blood:	n/a	n/a
24	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr19:45406873-45408415	U87	brain:	n/a	n/a
26	RCOR1	chr19:45407883-45408253	K562	blood:	n/a	n/a
27	CTCF	chr19:45408060-45408210	HPAF	blood vessel:	n/a	n/a
28	POLR2A	chr19:45407014-45408264	PBDE	blood:	n/a	n/a
29	CTCF	chr19:45408068-45408170	GM10266	blood:	n/a	n/a
30	CTCF	chr19:45408067-45408236	GM19238	blood:	n/a	n/a
31	CTCF	chr19:45408060-45408210	GM12871	blood:	n/a	n/a
32	POLR2A	chr19:45406788-45408320	K562	blood:	n/a	n/a
33	CTCF	chr19:45407970-45408312	K562	blood:	n/a	n/a
34	ELF1	chr19:45407820-45408289	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr19:45406827-45408452	HepG2	liver:	n/a	n/a
37	SP1	chr19:45407004-45408249	A549	lung:	n/a	chr19:45407300-45407314 chr19:45407409-45407423 chr19:45407412-45407424 chr19:45407305-45407314
38	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
39	ZBTB7A	chr19:45408019-45408290	K562	blood:	n/a	n/a
40	CTCF	chr19:45408020-45408170	HPF	lung:	n/a	n/a
41	POLR2A	chr19:45406924-45408372	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:45406805-45408290	HCT-116	colon:	n/a	n/a
43	RAD21	chr19:45407988-45408267	H1-hESC	embryonic stem cell:	n/a	n/a
44	PBX3	chr19:45406871-45408484	A549	lung:	n/a	n/a
45	RCOR1	chr19:45407820-45408165	K562	blood:	n/a	n/a
46	CTCF	chr19:45408060-45408210	K562	blood:	n/a	n/a
47	CTCF	chr19:45408040-45408190	GM12866	blood:	n/a	n/a
48	HEY1	chr19:45407860-45408413	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
50	FOSL2	chr19:45406929-45408384	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:45406839..45408683-chr19:45455179..45456897,2	MCF-7	breast:
2	chr19:45407734..45410496-chr19:45474972..45477815,2	K562	blood:
3	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
4	chr19:45407631..45409490-chr19:45429198..45431974,3	K562	blood:
5	chr19:45406398..45408162-chr19:45456600..45459438,2	K562	blood:
6	chr19:45407631..45409490-chr19:45429549..45431974,2	K562	blood:
7	chr19:45407367..45409189-chr19:45457819..45459866,2	K562	blood:
8	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
9	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
APOE	TF binding region
ENSG00000104853	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000214855	Chromatin interaction
ENSG00000267114	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10416628	1.00[CHB][hapmap]
rs11881832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399630	1.00[CHB][hapmap]
rs5164	1.00[CHB][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	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:45397000-45408400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
4	chr19:45399600-45408200	Weak transcription	Fetal Brain Male	brain
5	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
6	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
7	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
8	chr19:45403600-45409000	Weak transcription	HSMM	muscle
9	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:45405000-45408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:45406200-45408200	Weak transcription	Small Intestine	intestine
12	chr19:45406200-45408600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:45406200-45408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:45406200-45408800	Weak transcription	Left Ventricle	heart
15	chr19:45406200-45408800	Weak transcription	NHEK	skin
16	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
17	chr19:45406400-45408200	Weak transcription	Primary T cells from cord blood	blood
18	chr19:45406400-45408600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:45406400-45408600	Weak transcription	Fetal Lung	lung
20	chr19:45406400-45408600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:45406400-45408800	Weak transcription	HMEC	breast
22	chr19:45406400-45409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:45406600-45408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:45406600-45408600	Flanking Active TSS	HepG2	liver
25	chr19:45406800-45408600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:45406800-45409200	Weak transcription	Gastric	stomach
27	chr19:45406800-45409600	Weak transcription	Dnd41	blood
28	chr19:45406800-45414200	Weak transcription	Lung	lung
29	chr19:45407000-45408200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:45407000-45408200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr19:45407000-45408200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:45407000-45408200	Enhancers	Pancreas	Pancrea
33	chr19:45407000-45408400	Enhancers	Adipose Nuclei	Adipose
34	chr19:45407000-45408400	Enhancers	Brain Cingulate Gyrus	brain
35	chr19:45407000-45408400	Enhancers	Brain Substantia Nigra	brain
36	chr19:45407000-45408400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:45407000-45408400	Enhancers	Ovary	ovary
38	chr19:45407000-45408600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr19:45407000-45408600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr19:45407000-45408600	Flanking Active TSS	Liver	Liver
41	chr19:45407000-45408600	Enhancers	Fetal Intestine Large	intestine
42	chr19:45407000-45408800	Enhancers	K562	blood
43	chr19:45407200-45408200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr19:45407200-45408200	Enhancers	NHDF-Ad	bronchial
45	chr19:45407200-45408400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr19:45407200-45408400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:45407200-45408600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr19:45407200-45408600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:45407200-45408600	Enhancers	Colonic Mucosa	Colon
50	chr19:45407200-45408600	Weak transcription	NHLF	lung

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