Variant report

Variant	rs7146819
Chromosome Location	chr14:72918606-72918607
allele	C/T
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	POLR2A	chr14:72917947-72918623	SK-N-MC	brain:	n/a	n/a
2	BCLAF1	chr14:72917713-72918616	GM12878	blood:	n/a	chr14:72917886-72917899
3	MTA3	chr14:72917504-72918655	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:72918199-72918722	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:72918210-72918819	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr14:72918124-72918633	H1-neurons	neurons:	n/a	n/a
7	EP300	chr14:72917838-72918606	GM12878	blood:	n/a	chr14:72918019-72918028 chr14:72918018-72918032 chr14:72917883-72917899
8	POU2F2	chr14:72917745-72918657	GM12878	blood:	n/a	chr14:72918090-72918104
9	RUNX3	chr14:72917521-72918704	GM12878	blood:	n/a	n/a
10	SP1	chr14:72917889-72918696	GM12878	blood:	n/a	n/a
11	MAFK	chr14:72917167-72919014	GM12878	blood:	n/a	chr14:72918368-72918383
12	MAX	chr14:72917745-72918674	GM12878	blood:	n/a	chr14:72917999-72918008
13	RUNX3	chr14:72917661-72918624	GM12878	blood:	n/a	n/a
14	ZNF384	chr14:72917968-72918659	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:72918488-72918617	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:72918237-72918748	GM12892	blood:	n/a	n/a
17	NFIC	chr14:72917684-72918781	GM12878	blood:	n/a	n/a
18	ATF2	chr14:72917700-72918618	GM12878	blood:	n/a	n/a
19	KAP1	chr14:72917657-72918895	U2OS	brain:	n/a	n/a
20	BHLHE40	chr14:72917864-72918622	GM12878	blood:	n/a	n/a
21	ZNF384	chr14:72918233-72918631	K562	blood:	n/a	n/a
22	PAX5	chr14:72917565-72918619	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10139793	0.87[ASN][1000 genomes]
rs1155166	0.83[EUR][1000 genomes]
rs11628490	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12436059	0.84[EUR][1000 genomes]
rs1860152	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238189	0.81[EUR][1000 genomes]
rs2332835	0.86[EUR][1000 genomes]
rs4903019	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903020	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903022	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903025	0.85[EUR][1000 genomes]
rs7143134	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143154	0.84[EUR][1000 genomes]
rs7143912	0.84[EUR][1000 genomes]
rs7155105	0.84[EUR][1000 genomes]
rs7158962	0.86[EUR][1000 genomes]
rs719064	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740536	0.81[ASN][1000 genomes]
rs9989171	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72913800-72922600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:72916200-72920000	Enhancers	Fetal Stomach	stomach
3	chr14:72916400-72919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:72916600-72919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:72917200-72919000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:72917200-72919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:72917200-72919600	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:72917200-72919800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:72917200-72919800	Enhancers	Fetal Kidney	kidney
10	chr14:72917200-72919800	Enhancers	Fetal Muscle Leg	muscle
11	chr14:72917400-72919000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:72917400-72919000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:72917400-72919000	Enhancers	Fetal Brain Male	brain
14	chr14:72917400-72919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:72917400-72919400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:72917400-72919400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:72917400-72919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:72917400-72919600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:72917400-72919800	Enhancers	Fetal Thymus	thymus
20	chr14:72917400-72921000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:72917600-72918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:72917600-72918800	Enhancers	Fetal Brain Female	brain
23	chr14:72917600-72918800	Enhancers	Small Intestine	intestine
24	chr14:72917600-72919000	Flanking Active TSS	GM12878-XiMat	blood
25	chr14:72917600-72919200	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:72917600-72919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:72917600-72919800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:72917600-72919800	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:72917600-72919800	Enhancers	HSMMtube	muscle
30	chr14:72917600-72921400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:72917800-72918800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:72917800-72918800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr14:72917800-72918800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr14:72917800-72918800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:72917800-72919000	Enhancers	Primary B cells from cord blood	blood
36	chr14:72917800-72919000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:72917800-72920000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:72918000-72918800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr14:72918000-72918800	Weak transcription	NH-A	brain
40	chr14:72918000-72919000	Weak transcription	Colonic Mucosa	Colon
41	chr14:72918000-72919000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:72918000-72919000	Weak transcription	Fetal Intestine Small	intestine
43	chr14:72918000-72924400	Weak transcription	Spleen	Spleen
44	chr14:72918000-72930000	Weak transcription	Right Atrium	heart
45	chr14:72918200-72919200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:72918200-72920000	Enhancers	Dnd41	blood
47	chr14:72918200-72929000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:72918200-72930000	Weak transcription	Left Ventricle	heart
49	chr14:72918400-72918800	Weak transcription	Esophagus	oesophagus
50	chr14:72918400-72919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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