Variant report

Variant	rs10221529
Chromosome Location	chr19:19209951-19209952
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	NFIC	chr19:19209510-19210543	HepG2	liver:	n/a	chr19:19210322-19210339
2	POLR2A	chr19:19209564-19210044	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:19209601-19210554	HepG2	liver:	n/a	n/a
4	MBD4	chr19:19209583-19210256	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:19209416-19210675	HepG2	liver:	n/a	chr19:19209683-19209694
6	BRCA1	chr19:19209775-19210320	HepG2	liver:	n/a	n/a
7	JUND	chr19:19209603-19209962	HepG2	liver:	n/a	n/a
8	USF2	chr19:19209898-19210079	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:19209712-19209964	HepG2	liver:	n/a	n/a
10	TEAD4	chr19:19209429-19210110	HepG2	liver:	n/a	n/a
11	SP1	chr19:19209403-19210522	HepG2	liver:	n/a	chr19:19210356-19210370 chr19:19209802-19209815
12	NFIC	chr19:19209490-19210105	HepG2	liver:	n/a	n/a
13	BHLHE40	chr19:19209552-19210524	HepG2	liver:	n/a	n/a
14	TBP	chr19:19209565-19210509	HepG2	liver:	n/a	n/a
15	RAD21	chr19:19209522-19209984	HepG2	liver:	n/a	chr19:19209860-19209870
16	POLR2A	chr19:19209374-19210552	HepG2	liver:	n/a	n/a
17	YY1	chr19:19209444-19210038	HepG2	liver:	n/a	n/a
18	HEY1	chr19:19209512-19210587	HepG2	liver:	n/a	n/a
19	EP300	chr19:19209329-19210537	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:19209750-19210478	HepG2	liver:	n/a	n/a
21	RAD21	chr19:19209616-19209963	HepG2	liver:	n/a	chr19:19209860-19209870
22	HEY1	chr19:19209476-19210582	HepG2	liver:	n/a	n/a
23	MYBL2	chr19:19209318-19210114	HepG2	liver:	n/a	n/a
24	ARID3A	chr19:19209694-19210029	HepG2	liver:	n/a	n/a
25	SMC3	chr19:19209592-19210315	HepG2	liver:	n/a	n/a
26	FOSL2	chr19:19209488-19210025	HepG2	liver:	n/a	n/a
27	MYBL2	chr19:19209364-19210599	HepG2	liver:	n/a	n/a
28	HNF4A	chr19:19209544-19210055	HepG2	liver:	n/a	chr19:19209920-19209928
29	FOXA2	chr19:19209471-19209963	HepG2	liver:	n/a	n/a
30	EP300	chr19:19209455-19210465	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:19208966-19210556	HepG2	liver:	n/a	n/a
32	FOXA1	chr19:19209403-19209987	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:19209556-19210049	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:19209514-19210530	HepG2	liver:	n/a	chr19:19209683-19209694
35	EP300	chr19:19209494-19210041	HepG2	liver:	n/a	n/a
36	FOXA1	chr19:19209445-19209980	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:19209108-19211735	HepG2	liver:	n/a	n/a
38	MAZ	chr19:19209666-19210587	HepG2	liver:	n/a	n/a
39	HNF4G	chr19:19209440-19210007	HepG2	liver:	n/a	chr19:19209920-19209928
40	MAX	chr19:19209628-19210491	HepG2	liver:	n/a	n/a
41	FOXA1	chr19:19209395-19209977	HepG2	liver:	n/a	n/a
42	HDAC2	chr19:19209543-19209957	HepG2	liver:	n/a	n/a
43	HDAC2	chr19:19209522-19210173	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19208308..19213964-chr19:19214081..19217541,6	K562	blood:

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.85[EUR][1000 genomes]
rs10221450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11549380	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.87[EUR][1000 genomes]
rs4808171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4808178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4808180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808181	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808896	0.87[EUR][1000 genomes]
rs4808897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4808899	0.87[EUR][1000 genomes]
rs4808909	0.83[EUR][1000 genomes]
rs4808910	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808914	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808915	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808921	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808922	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55678828	0.87[EUR][1000 genomes]
rs56141206	0.87[EUR][1000 genomes]
rs56144126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56159042	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56227420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60489867	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60696741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004898	0.87[EUR][1000 genomes]
rs73004899	0.87[EUR][1000 genomes]
rs73006907	0.87[EUR][1000 genomes]
rs73006928	0.87[EUR][1000 genomes]
rs73008923	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73008928	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008930	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008934	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008939	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008945	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008958	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008960	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73010908	1.00[AMR][1000 genomes];1.00[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	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
2	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:19176400-19215800	Weak transcription	NHLF	lung
4	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
6	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
9	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
14	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:19194200-19214000	Weak transcription	K562	blood
16	chr19:19194600-19229400	Weak transcription	Dnd41	blood
17	chr19:19194800-19211400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:19194800-19215400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
20	chr19:19199000-19216200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:19200800-19215800	Weak transcription	Right Atrium	heart
22	chr19:19201000-19212400	Strong transcription	Primary T cells from cord blood	blood
23	chr19:19201800-19215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:19201800-19215600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:19202000-19213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:19203000-19215600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:19204800-19210600	Enhancers	Fetal Intestine Large	intestine
29	chr19:19204800-19213800	Strong transcription	Fetal Stomach	stomach
30	chr19:19204800-19214200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:19205200-19210000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:19205200-19216400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr19:19205400-19212800	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:19205800-19216200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:19206400-19210600	Genic enhancers	Fetal Intestine Small	intestine
36	chr19:19206400-19212600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr19:19206400-19214800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:19206600-19210600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:19206600-19212200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr19:19206600-19212800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19206600-19212800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19206600-19212800	Strong transcription	Thymus	Thymus
43	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:19206800-19211200	Weak transcription	Fetal Kidney	kidney
45	chr19:19206800-19211600	Strong transcription	Fetal Thymus	thymus
46	chr19:19206800-19212600	Strong transcription	Fetal Brain Female	brain
47	chr19:19206800-19212600	Strong transcription	Lung	lung
48	chr19:19206800-19213200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr19:19206800-19214000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:19206800-19215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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