Variant report

Variant	rs1860152
Chromosome Location	chr14:72917866-72917867
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	CEBPB	chr14:72917650-72918599	GM12878	blood:	n/a	n/a
2	PAX5	chr14:72917732-72918254	GM12878	blood:	n/a	n/a
3	CUX1	chr14:72917866-72918502	GM12878	blood:	n/a	n/a
4	BCLAF1	chr14:72917713-72918616	GM12878	blood:	n/a	chr14:72917886-72917899
5	STAT5A	chr14:72917772-72918302	GM12878	blood:	n/a	chr14:72917977-72917988
6	MTA3	chr14:72917504-72918655	GM12878	blood:	n/a	n/a
7	CEBPB	chr14:72917769-72918093	K562	blood:	n/a	n/a
8	RCOR1	chr14:72917576-72918502	K562	blood:	n/a	n/a
9	SMC3	chr14:72917821-72918580	GM12878	blood:	n/a	n/a
10	CEBPB	chr14:72917805-72918045	H1-hESC	embryonic stem cell:	n/a	n/a
11	IRF4	chr14:72917674-72918227	GM12878	blood:	n/a	n/a
12	EP300	chr14:72917838-72918606	GM12878	blood:	n/a	chr14:72918019-72918028 chr14:72918018-72918032 chr14:72917883-72917899
13	YY1	chr14:72917776-72918111	GM12892	blood:	n/a	n/a
14	POU2F2	chr14:72917745-72918657	GM12878	blood:	n/a	chr14:72918090-72918104
15	WRNIP1	chr14:72917543-72918469	GM12878	blood:	n/a	n/a
16	CEBPB	chr14:72917766-72918104	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:72917795-72918068	Hela-S3	cervix:	n/a	n/a
18	FOXM1	chr14:72917731-72918503	GM12878	blood:	n/a	chr14:72917862-72917870
19	RUNX3	chr14:72917521-72918704	GM12878	blood:	n/a	n/a
20	SP1	chr14:72917866-72918602	GM12878	blood:	n/a	n/a
21	YY1	chr14:72917716-72918120	GM12892	blood:	n/a	n/a
22	POLR2A	chr14:72917866-72917876	GM12878	blood:	n/a	n/a
23	TCF12	chr14:72917785-72918069	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:72917325-72917906	H1-neurons	neurons:	n/a	n/a
25	TCF3	chr14:72917737-72918049	GM12878	blood:	n/a	n/a
26	BCL11A	chr14:72917821-72918480	GM12878	blood:	n/a	chr14:72917886-72917899
27	MAFK	chr14:72917167-72919014	GM12878	blood:	n/a	chr14:72918368-72918383
28	BATF	chr14:72917820-72918138	GM12878	blood:	n/a	n/a
29	MYC	chr14:72917778-72917875	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr14:72917745-72918674	GM12878	blood:	n/a	chr14:72917999-72918008
31	BCL11A	chr14:72917818-72918503	GM12878	blood:	n/a	chr14:72917886-72917899
32	RUNX3	chr14:72917661-72918624	GM12878	blood:	n/a	n/a
33	SPI1	chr14:72917623-72918217	GM12878	blood:	n/a	n/a
34	MYC	chr14:72917761-72918541	K562	blood:	n/a	chr14:72917999-72918008
35	CHD2	chr14:72917810-72918565	GM12878	blood:	n/a	chr14:72918209-72918219
36	MTA3	chr14:72917701-72918481	GM12878	blood:	n/a	n/a
37	SPI1	chr14:72917792-72918223	GM12878	blood:	n/a	n/a
38	YY1	chr14:72917620-72918150	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr14:72917842-72918540	GM12878	blood:	n/a	n/a
40	PAX5	chr14:72917793-72918081	GM12878	blood:	n/a	n/a
41	SPI1	chr14:72917853-72918187	GM12891	blood:	n/a	n/a
42	NFIC	chr14:72917684-72918781	GM12878	blood:	n/a	n/a
43	BATF	chr14:72917728-72918108	GM12878	blood:	n/a	n/a
44	EP300	chr14:72917750-72918511	GM12878	blood:	n/a	chr14:72918019-72918028 chr14:72918018-72918032 chr14:72917883-72917899
45	STAT5A	chr14:72917789-72918344	GM12878	blood:	n/a	chr14:72917977-72917988 chr14:72918300-72918312
46	NFIC	chr14:72917685-72918593	GM12878	blood:	n/a	n/a
47	MEF2A	chr14:72917785-72918257	GM12878	blood:	n/a	n/a
48	ATF2	chr14:72917700-72918618	GM12878	blood:	n/a	n/a
49	EP300	chr14:72917771-72918412	K562	blood:	n/a	chr14:72918019-72918028 chr14:72918018-72918032 chr14:72917883-72917899
50	ATF2	chr14:72917866-72918405	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1004477	1.00[JPT][hapmap]
rs10139793	0.89[ASN][1000 genomes]
rs10151157	0.87[CEU][hapmap]
rs1155166	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11628490	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12436059	0.90[EUR][1000 genomes]
rs12436819	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17115530	0.92[JPT][hapmap]
rs17115708	0.93[JPT][hapmap]
rs2238189	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2238190	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2239211	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2332835	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4903015	0.88[CEU][hapmap]
rs4903019	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903020	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903022	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903023	0.82[JPT][hapmap]
rs4903025	0.86[EUR][1000 genomes]
rs58470149	0.81[ASN][1000 genomes]
rs7143134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7143154	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7143912	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7146819	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153455	0.88[CEU][hapmap]
rs7155105	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7158962	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7160223	0.82[JPT][hapmap]
rs719064	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740536	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8018108	0.92[CEU][hapmap]
rs8022670	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9989171	0.96[CEU][hapmap];0.90[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:81 , 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	chr14:72917000-72918400	Enhancers	Fetal Lung	lung
6	chr14:72917200-72918000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:72917200-72918000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr14:72917200-72918000	Enhancers	Brain Substantia Nigra	brain
9	chr14:72917200-72919000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:72917200-72919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:72917200-72919600	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:72917200-72919800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:72917200-72919800	Enhancers	Fetal Kidney	kidney
14	chr14:72917200-72919800	Enhancers	Fetal Muscle Leg	muscle
15	chr14:72917400-72918000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:72917400-72918000	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:72917400-72918400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:72917400-72918400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:72917400-72918400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:72917400-72918400	Enhancers	K562	blood
21	chr14:72917400-72918600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:72917400-72919000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:72917400-72919000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:72917400-72919000	Enhancers	Fetal Brain Male	brain
25	chr14:72917400-72919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:72917400-72919400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:72917400-72919400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:72917400-72919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:72917400-72919600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:72917400-72919800	Enhancers	Fetal Thymus	thymus
31	chr14:72917400-72921000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:72917600-72918000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:72917600-72918000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:72917600-72918000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:72917600-72918000	Enhancers	Brain Anterior Caudate	brain
36	chr14:72917600-72918000	Enhancers	Colonic Mucosa	Colon
37	chr14:72917600-72918000	Enhancers	Fetal Intestine Small	intestine
38	chr14:72917600-72918000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:72917600-72918000	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr14:72917600-72918000	Enhancers	Right Atrium	heart
41	chr14:72917600-72918000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:72917600-72918000	Enhancers	Spleen	Spleen
43	chr14:72917600-72918200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:72917600-72918200	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:72917600-72918200	Enhancers	Left Ventricle	heart
46	chr14:72917600-72918200	Flanking Active TSS	Dnd41	blood
47	chr14:72917600-72918400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:72917600-72918400	Enhancers	Esophagus	oesophagus
49	chr14:72917600-72918600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:72917600-72918600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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