Variant report

Variant	rs10419162
Chromosome Location	chr19:18529207-18529208
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	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
2	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
3	MAX	chr19:18526998-18529277	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
4	RCOR1	chr19:18529173-18530395	K562	blood:	n/a	n/a
5	MYC	chr19:18527031-18531008	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
6	RCOR1	chr19:18529166-18529305	K562	blood:	n/a	n/a
7	POLR2A	chr19:18527066-18529321	HL-60	blood:	n/a	n/a
8	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr19:18529070-18529248	K562	blood:	n/a	n/a
10	MTA3	chr19:18526999-18529265	GM12878	blood:	n/a	n/a
11	EBF1	chr19:18529044-18529363	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
13	TEAD4	chr19:18528841-18529258	K562	blood:	n/a	n/a
14	MAX	chr19:18529177-18531013	ECC-1	luminal epithelium:	n/a	chr19:18529211-18529221 chr19:18529634-18529643
15	SMARCC1	chr19:18528948-18529973	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr19:18527026-18529441	SK-N-SH	brain:	n/a	chr19:18527789-18527804
17	E2F6	chr19:18527005-18531166	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18527812-18527824 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18528562-18528577 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18528660-18528672 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18527824-18527833 chr19:18528591-18528600 chr19:18530814-18530824 chr19:18528688-18528697
18	MAX	chr19:18527068-18530645	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
19	E2F6	chr19:18528956-18530999	Hela-S3	cervix:	n/a	chr19:18530816-18530823 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
20	MYC	chr19:18527048-18529368	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
21	MAX	chr19:18526904-18531482	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
22	STAT5A	chr19:18528998-18529904	GM12878	blood:	n/a	chr19:18529123-18529135
23	ZBTB7A	chr19:18527421-18529541	ECC-1	luminal epithelium:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
24	BACH1	chr19:18527264-18529274	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr19:18527048-18529588	IMR90	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
26	POLR2A	chr19:18525194-18531443	K562	blood:	n/a	n/a
27	BHLHE40	chr19:18527096-18530332	K562	blood:	n/a	chr19:18528334-18528350 chr19:18530260-18530276 chr19:18527725-18527741
28	NR2F2	chr19:18524998-18529278	K562	blood:	n/a	n/a
29	MAX	chr19:18526985-18531319	HCT-116	colon:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
30	MYC	chr19:18527041-18530397	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
31	MAX	chr19:18527430-18529238	HepG2	liver:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
32	POLR2A	chr19:18527569-18529328	HepG2	liver:	n/a	n/a
33	SMARCB1	chr19:18527174-18530133	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr19:18528734-18530043	K562	blood:	n/a	n/a
35	POLR2A	chr19:18525060-18530554	K562	blood:	n/a	n/a
36	CBX3	chr19:18529191-18530413	K562	blood:	n/a	n/a
37	MAX	chr19:18526932-18530775	HCT-116	colon:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
38	MAX	chr19:18526983-18529243	ECC-1	luminal epithelium:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
39	HCFC1	chr19:18527055-18530587	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:18527085-18530426	K562	blood:	n/a	n/a
41	MYC	chr19:18527037-18530785	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
42	ELF1	chr19:18529109-18531442	GM12878	blood:	n/a	chr19:18530437-18530446 chr19:18530255-18530267 chr19:18530440-18530449 chr19:18530524-18530536 chr19:18530434-18530443 chr19:18530142-18530154 chr19:18530261-18530273 chr19:18530435-18530447
43	SPI1	chr19:18528276-18529324	HL-60	blood:	n/a	chr19:18528623-18528630 chr19:18528540-18528553 chr19:18528505-18528512

No.	Distal block	Cell Line	Cell type
1	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18220149..18221787-chr19:18528170..18529964,2	K562	blood:
4	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
7	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
8	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
9	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
10	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
11	chr19:18421126..18423149-chr19:18527568..18529347,2	MCF-7	breast:
12	chr19:18527987..18529989-chr19:18630753..18632961,2	K562	blood:
13	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
14	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
15	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
16	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
17	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
18	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
19	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
20	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:
21	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
22	chr19:18527888..18529469-chr19:18682713..18684941,2	K562	blood:
23	chr19:18396145..18399548-chr19:18528063..18530226,4	K562	blood:
24	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
25	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
26	chr19:18263382..18266326-chr19:18527834..18529427,2	K562	blood:
27	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
28	chr12:44200151..44200658-chr19:18528720..18529353,2	Hela-S3	cervix:
29	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
30	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000268173	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000267898	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000130513	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10426105	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61564210	0.92[AFR][1000 genomes]
rs7249429	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription 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 miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv3399036	chr19:18529177-18531725	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18525000-18529600	Enhancers	Liver	Liver
2	chr19:18525000-18529600	Enhancers	Spleen	Spleen
3	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:18525400-18529600	Enhancers	Lung	lung
5	chr19:18527200-18530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:18527200-18530200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:18527400-18529400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18527400-18529800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr19:18527400-18530000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:18527400-18530000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:18527400-18530000	Flanking Active TSS	Right Ventricle	heart
14	chr19:18527400-18530200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:18527600-18529600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:18527600-18530000	Active TSS	Fetal Kidney	kidney
17	chr19:18527600-18530000	Enhancers	Small Intestine	intestine
18	chr19:18528000-18529400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:18528000-18530200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:18528200-18529400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr19:18528200-18529600	Enhancers	Fetal Brain Male	brain
23	chr19:18528200-18529600	Enhancers	HMEC	breast
24	chr19:18528400-18529400	Enhancers	Brain Substantia Nigra	brain
25	chr19:18528400-18529600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:18528400-18529600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:18528400-18529600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr19:18528400-18529600	Enhancers	Left Ventricle	heart
29	chr19:18528400-18529600	Weak transcription	HSMMtube	muscle
30	chr19:18528400-18529800	Bivalent Enhancer	Fetal Heart	heart
31	chr19:18528400-18529800	Enhancers	HUVEC	blood vessel
32	chr19:18528400-18529800	Enhancers	NHDF-Ad	bronchial
33	chr19:18528400-18530000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:18528400-18530400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:18528600-18529800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:18528600-18530000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18528600-18530000	Flanking Active TSS	A549	lung
38	chr19:18528800-18529400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr19:18528800-18529600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18528800-18529600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr19:18528800-18529600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr19:18528800-18529600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:18528800-18529600	Enhancers	Psoas Muscle	Psoas
44	chr19:18528800-18529800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr19:18528800-18529800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:18528800-18529800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:18528800-18529800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr19:18528800-18530000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
49	chr19:18528800-18530000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr19:18528800-18530000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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