Variant report

Variant	rs36089262
Chromosome Location	chr19:42913146-42913147
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	HMGN3	chr19:42913082-42913185	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
2	chr19:42838444..42841386-chr19:42911840..42914097,2	K562	blood:

Variant related genes	Relation type
LIPE	TF binding region
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10401224	1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10403856	1.00[AMR][1000 genomes]
rs10404650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10408986	1.00[AMR][1000 genomes]
rs10409428	1.00[EUR][1000 genomes]
rs10409433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414695	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417606	1.00[AMR][1000 genomes]
rs10418102	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418988	1.00[AMR][1000 genomes]
rs10420327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	1.00[EUR][1000 genomes]
rs10421857	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	1.00[EUR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425320	1.00[EUR][1000 genomes]
rs10425783	1.00[EUR][1000 genomes]
rs10426267	1.00[EUR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878297	1.00[EUR][1000 genomes]
rs11879073	1.00[EUR][1000 genomes]
rs11879538	1.00[EUR][1000 genomes]
rs11880214	1.00[EUR][1000 genomes]
rs11880356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346831	1.00[AMR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs13346879	1.00[AMR][1000 genomes]
rs2229614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28402882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686771	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28699037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	1.00[EUR][1000 genomes]
rs33919763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35707383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41407146	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73560411	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
3	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
4	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
5	chr19:42906400-42913600	Weak transcription	HSMM	muscle
6	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:42906400-42916200	Weak transcription	HMEC	breast
8	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
10	chr19:42906600-42913600	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
13	chr19:42906800-42913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
15	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:42906800-42924000	Weak transcription	A549	lung
18	chr19:42906800-42924400	Weak transcription	Osteobl	bone
19	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:42907000-42914000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:42907000-42916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
23	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:42907200-42913200	Strong transcription	Spleen	Spleen
25	chr19:42907200-42913600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:42907200-42913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:42907200-42915200	Strong transcription	Fetal Thymus	thymus
28	chr19:42907200-42916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:42907600-42916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:42907800-42915200	Strong transcription	Thymus	Thymus
32	chr19:42908800-42913200	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:42908800-42915800	Strong transcription	Fetal Brain Female	brain
34	chr19:42908800-42916000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:42909000-42925800	Weak transcription	Dnd41	blood
36	chr19:42909400-42915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:42909400-42915200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
38	chr19:42909600-42915200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:42909800-42913400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:42910200-42914200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:42910400-42924200	Weak transcription	GM12878-XiMat	blood
42	chr19:42910600-42913600	Weak transcription	Right Atrium	heart
43	chr19:42911000-42915200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:42911000-42924000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:42911000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:42911200-42913600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:42911200-42923800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:42911400-42914400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:42911400-42915400	Strong transcription	Brain Germinal Matrix	brain
50	chr19:42911600-42923600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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