Variant report

Variant	rs7247144
Chromosome Location	chr19:39755788-39755789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39755710-39755800	H1-hESC	embryonic stem cell:	n/a	chr19:39755732-39755740
2	MAX	chr19:39755660-39755894	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
3	ZNF143	chr19:39755631-39755813	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:39755640-39755790	BJ	skin:	n/a	chr19:39755732-39755740
5	E2F6	chr19:39755537-39756608	H1-hESC	embryonic stem cell:	n/a	chr19:39755834-39755844 chr19:39756458-39756467
6	CTCF	chr19:39755660-39755810	AG04449	skin:	n/a	chr19:39755732-39755740
7	MYC	chr19:39755674-39755848	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
8	USF1	chr19:39755594-39755952	H1-hESC	embryonic stem cell:	n/a	chr19:39755856-39755872
9	CTBP2	chr19:39755042-39755842	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr19:39755643-39755826	HUVEC	blood vessel:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
11	CTCF	chr19:39755746-39755797	Fibrobl	skin:	n/a	n/a
12	E2F6	chr19:39754395-39756649	H1-hESC	embryonic stem cell:	n/a	chr19:39755834-39755844 chr19:39756458-39756467
13	CTCF	chr19:39755660-39755810	HBMEC	blood vessel:	n/a	chr19:39755732-39755740
14	MAX	chr19:39755534-39756622	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39756459-39756469 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
15	POLR2A	chr19:39755618-39755930	H1-neurons	neurons:	n/a	n/a
16	TEAD4	chr19:39755602-39755890	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF2	chr19:39755725-39755799	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:39755640-39755790	SAEC	small airway:	n/a	chr19:39755732-39755740
19	NANOG	chr19:39755575-39755832	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr19:39755487-39756625	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39756459-39756469 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
21	CEBPB	chr19:39755685-39755807	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF1	chr19:39755516-39755945	H1-hESC	embryonic stem cell:	n/a	chr19:39755856-39755872
23	SUZ12	chr19:39754491-39756453	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39753838..39756399-chr19:39831359..39832891,2	K562	blood:

Variant related genes	Relation type
IFNL2	TF binding region
ENSG00000269246	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11665818	0.80[EUR][1000 genomes]
rs62120535	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
5	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39753800-39756000	Enhancers	Liver	Liver
2	chr19:39754400-39756200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr19:39754400-39756400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr19:39754600-39755800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:39754600-39755800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:39754600-39755800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:39754600-39756200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:39754600-39756200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:39754600-39756200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr19:39754600-39756200	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr19:39754600-39756400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:39754600-39756400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:39754600-39756400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:39754600-39756400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:39754600-39756400	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr19:39754600-39756400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr19:39754600-39756400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr19:39754600-39756600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr19:39754600-39756800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:39754800-39755800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr19:39754800-39755800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr19:39754800-39755800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:39754800-39755800	Bivalent Enhancer	Esophagus	oesophagus
24	chr19:39754800-39756000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr19:39754800-39756000	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr19:39754800-39756000	Enhancers	Gastric	stomach
27	chr19:39754800-39756400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
28	chr19:39754800-39756400	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr19:39754800-39756400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr19:39754800-39756600	Bivalent Enhancer	Lung	lung
31	chr19:39754800-39756600	Bivalent Enhancer	Spleen	Spleen
32	chr19:39755000-39755800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:39755000-39755800	Weak transcription	Right Atrium	heart
34	chr19:39755000-39756000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:39755000-39756000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:39755000-39756200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr19:39755000-39756400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr19:39755200-39755800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr19:39755200-39755800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr19:39755200-39755800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr19:39755200-39756000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr19:39755200-39756000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr19:39755200-39756400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:39755400-39755800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr19:39755400-39756000	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr19:39755400-39756000	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr19:39755400-39756000	Bivalent Enhancer	Fetal Lung	lung
48	chr19:39755400-39756200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:39755400-39756400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr19:39755600-39755800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links