Variant report

Variant	rs4803447
Chromosome Location	chr19:41731175-41731176
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	EP300	chr19:41731029-41733372	A549	lung:	n/a	chr19:41732177-41732186 chr19:41732179-41732188 chr19:41732175-41732191 chr19:41732187-41732203 chr19:41731857-41731873
2	MAX	chr19:41729124-41733421	A549	lung:	n/a	chr19:41732217-41732226 chr19:41729661-41729670 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
3	POLR2A	chr19:41731038-41732909	HUVEC	blood vessel:	n/a	n/a
4	SIN3AK20	chr19:41731135-41733273	A549	lung:	n/a	n/a
5	PBX3	chr19:41731112-41733271	A549	lung:	n/a	n/a
6	MAZ	chr19:41731016-41733348	IMR90	lung:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
7	POLR2A	chr19:41731080-41732633	PANC-1	pancreas:	n/a	n/a
8	JUND	chr19:41731111-41732856	HCT-116	colon:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867 chr19:41731605-41731616
9	TCF12	chr19:41730981-41733983	A549	lung:	n/a	chr19:41732002-41732009
10	POLR2A	chr19:41731146-41733285	U87	brain:	n/a	n/a
11	POLR2A	chr19:41731166-41732980	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr19:41724527-41734977	U87	brain:	n/a	n/a
13	SIN3AK20	chr19:41730956-41733263	A549	lung:	n/a	n/a
14	SIX5	chr19:41731157-41732258	A549	lung:	n/a	n/a
15	TCF12	chr19:41731082-41733113	A549	lung:	n/a	chr19:41732002-41732009
16	GABPA	chr19:41731160-41733017	A549	lung:	n/a	chr19:41732251-41732260 chr19:41732047-41732056
17	POLR2A	chr19:41731146-41733257	U87	brain:	n/a	n/a
18	BCL3	chr19:41731095-41733367	A549	lung:	n/a	chr19:41732177-41732190 chr19:41732064-41732073
19	SP1	chr19:41731004-41733282	A549	lung:	n/a	chr19:41732250-41732264 chr19:41733066-41733075 chr19:41732250-41732259 chr19:41732074-41732085 chr19:41733062-41733076 chr19:41732250-41732259 chr19:41732251-41732260 chr19:41731820-41731834 chr19:41733065-41733077 chr19:41732249-41732261
20	EP300	chr19:41731057-41733327	A549	lung:	n/a	chr19:41732177-41732186 chr19:41732179-41732188 chr19:41732175-41732191 chr19:41732187-41732203 chr19:41731857-41731873
21	GATA3	chr19:41731145-41733168	A549	lung:	n/a	chr19:41732097-41732106 chr19:41731605-41731614 chr19:41731291-41731299
22	REST	chr19:41731101-41733426	A549	lung:	n/a	chr19:41733063-41733076 chr19:41732188-41732198
23	GATA3	chr19:41730807-41733367	A549	lung:	n/a	chr19:41732097-41732106 chr19:41731605-41731614 chr19:41731291-41731299
24	SP1	chr19:41731052-41733290	A549	lung:	n/a	chr19:41732250-41732264 chr19:41733066-41733075 chr19:41732250-41732259 chr19:41732074-41732085 chr19:41733062-41733076 chr19:41732250-41732259 chr19:41732251-41732260 chr19:41731820-41731834 chr19:41733065-41733077 chr19:41732249-41732261
25	NR3C1	chr19:41731085-41732876	A549	lung:	n/a	chr19:41731606-41731615 chr19:41731892-41731907 chr19:41732096-41732105 chr19:41732095-41732104
26	BCL3	chr19:41731027-41733318	A549	lung:	n/a	chr19:41732177-41732190 chr19:41732064-41732073
27	MAX	chr19:41731154-41732868	HCT-116	colon:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
28	ELF1	chr19:41731145-41732807	A549	lung:	n/a	chr19:41732177-41732186 chr19:41732064-41732073
29	NR3C1	chr19:41731102-41733008	A549	lung:	n/a	chr19:41731606-41731615 chr19:41731892-41731907 chr19:41732096-41732105 chr19:41732095-41732104
30	MAX	chr19:41731119-41733240	A549	lung:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
31	ETS1	chr19:41731108-41733196	A549	lung:	n/a	chr19:41732251-41732262 chr19:41732061-41732074 chr19:41732065-41732075 chr19:41732064-41732075 chr19:41733064-41733075
32	POLR2A	chr19:41730573-41734153	IMR90	lung:	n/a	n/a
33	POLR2A	chr19:41724475-41734946	U87	brain:	n/a	n/a
34	SIX5	chr19:41729156-41733269	A549	lung:	n/a	n/a
35	YY1	chr19:41731101-41733068	A549	lung:	n/a	chr19:41732180-41732194 chr19:41732251-41732260 chr19:41732177-41732191 chr19:41732266-41732280 chr19:41732174-41732188
36	NR2F2	chr19:41731149-41732783	K562	blood:	n/a	n/a
37	FOSL2	chr19:41731019-41733255	A549	lung:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867
38	POLR2A	chr19:41731173-41733165	SK-N-SH	brain:	n/a	n/a
39	SP1	chr19:41731145-41732860	HCT-116	colon:	n/a	chr19:41732250-41732264 chr19:41732250-41732259 chr19:41732074-41732085 chr19:41732250-41732259 chr19:41732251-41732260 chr19:41731820-41731834 chr19:41732249-41732261
40	TCF12	chr19:41731052-41732835	SK-N-SH	brain:	n/a	chr19:41732002-41732009

No.	Distal block	Cell Line	Cell type
1	chr19:41723838..41725348-chr19:41729889..41731606,2	K562	blood:
2	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:
3	chr19:41730123..41732315-chr19:41766672..41769413,2	K562	blood:
4	chr19:41725446..41729347-chr19:41729788..41733704,5	K562	blood:
5	chr19:41730545..41733193-chr19:41768273..41769945,2	MCF-7	breast:
6	chr19:41730267..41732320-chr19:41857985..41860743,2	MCF-7	breast:
7	chr19:41726271..41727956-chr19:41730948..41733143,2	MCF-7	breast:

Variant related genes	Relation type
AXL	TF binding region
ENSG00000269652	TF binding region
ENSG00000167601	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000269652	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12459929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459996	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461203	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15052	1.00[ASN][1000 genomes]
rs17251589	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841050	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994820	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254331	1.00[ASN][1000 genomes]
rs73043273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045223	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045226	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045231	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045269	1.00[ASN][1000 genomes]
rs8109440	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41724400-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41725400-41731800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:41726000-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:41726200-41731200	Weak transcription	Fetal Kidney	kidney
5	chr19:41726800-41731400	Enhancers	HepG2	liver
6	chr19:41726800-41731600	Weak transcription	Brain Germinal Matrix	brain
7	chr19:41727200-41731400	Weak transcription	Fetal Intestine Large	intestine
8	chr19:41727800-41731200	Weak transcription	Pancreas	Pancrea
9	chr19:41727800-41731400	Weak transcription	Placenta	Placenta
10	chr19:41728200-41731400	Weak transcription	Brain Anterior Caudate	brain
11	chr19:41728400-41731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:41728400-41731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:41728400-41731400	Weak transcription	Fetal Lung	lung
14	chr19:41728400-41731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:41728600-41731600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:41728600-41731600	Weak transcription	Brain Substantia Nigra	brain
17	chr19:41728800-41731400	Transcr. at gene 5' and 3'	A549	lung
18	chr19:41729000-41731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:41729200-41731400	Genic enhancers	Fetal Stomach	stomach
20	chr19:41729200-41731600	Transcr. at gene 5' and 3'	HSMM	muscle
21	chr19:41729200-41731800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:41729200-41731800	Transcr. at gene 5' and 3'	Osteobl	bone
23	chr19:41729200-41732000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr19:41729200-41732800	Transcr. at gene 5' and 3'	NHLF	lung
25	chr19:41729400-41731600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr19:41729400-41731600	Enhancers	Left Ventricle	heart
27	chr19:41729400-41731600	Enhancers	K562	blood
28	chr19:41729600-41731800	Weak transcription	Right Atrium	heart
29	chr19:41729800-41731200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:41729800-41731200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:41729800-41731200	Enhancers	Hela-S3	cervix
32	chr19:41729800-41731400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
33	chr19:41729800-41731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41729800-41731400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:41729800-41731400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:41729800-41731800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:41729800-41731800	Weak transcription	Colonic Mucosa	Colon
38	chr19:41729800-41731800	Weak transcription	Esophagus	oesophagus
39	chr19:41729800-41731800	Weak transcription	Ovary	ovary
40	chr19:41729800-41732000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:41729800-41732000	Weak transcription	Aorta	Aorta
42	chr19:41730000-41731200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:41730000-41731200	Genic enhancers	HMEC	breast
44	chr19:41730000-41731600	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:41730000-41731600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:41730000-41731600	Weak transcription	Fetal Intestine Small	intestine
47	chr19:41730000-41732000	Weak transcription	Lung	lung
48	chr19:41730200-41731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr19:41730200-41731200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:41730200-41731200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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