Variant report

Variant	rs41446250
Chromosome Location	chr19:18390253-18390254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:408)
CpG islands
(count:0)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:18390242-18390494	Pancreas_OC	pancreas:	n/a	n/a
2	POU2F2	chr19:18390251-18390476	GM12878	blood:	n/a	n/a
3	HEY1	chr19:18388695-18394026	HepG2	liver:	n/a	chr19:18390515-18390530 chr19:18392424-18392439 chr19:18393317-18393332
4	HMGN3	chr19:18390210-18393435	K562	blood:	n/a	n/a
5	ELF1	chr19:18390187-18390640	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr19:18390149-18390635	K562	blood:	n/a	chr19:18390384-18390393
7	CTCF	chr19:18390251-18390515	GM19239	blood:	n/a	n/a
8	RCOR1	chr19:18389492-18390615	K562	blood:	n/a	n/a
9	RAD21	chr19:18390229-18390575	K562	blood:	n/a	n/a
10	MAX	chr19:18390246-18391577	NB4	blood:	n/a	n/a
11	ELF1	chr19:18390107-18390559	A549	lung:	n/a	n/a
12	POLR2A	chr19:18382150-18392613	HepG2	liver:	n/a	n/a
13	HCFC1	chr19:18389403-18391720	Hela-S3	cervix:	n/a	n/a
14	FOSL2	chr19:18390055-18390755	A549	lung:	n/a	n/a
15	CTCF	chr19:18390241-18390497	ProgFib	skin:	n/a	n/a
16	POLR2A	chr19:18389487-18390835	SK-N-SH	brain:	n/a	n/a
17	MAFK	chr19:18389630-18390812	K562	blood:	n/a	chr19:18390000-18390015
18	POLR2A	chr19:18389318-18391619	U87	brain:	n/a	n/a
19	POLR2A	chr19:18390227-18390598	A549	lung:	n/a	n/a
20	CEBPB	chr19:18389743-18390478	K562	blood:	n/a	n/a
21	POLR2A	chr19:18388084-18394020	GM12891	blood:	n/a	n/a
22	RAD21	chr19:18390066-18390765	MCF-7	breast:	n/a	n/a
23	ELF1	chr19:18390215-18390719	K562	blood:	n/a	n/a
24	RFX5	chr19:18390253-18390681	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:18388712-18391582	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr19:18388704-18391047	GM12891	blood:	n/a	n/a
27	NFIC	chr19:18390143-18390752	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr19:18389628-18390946	K562	blood:	n/a	n/a
29	CHD2	chr19:18388743-18390759	K562	blood:	n/a	n/a
30	POLR2A	chr19:18388625-18393808	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr19:18390234-18390500	Kidney_OC	kidney:	n/a	n/a
32	POLR2A	chr19:18390143-18390778	ECC-1	luminal epithelium:	n/a	n/a
33	NFIC	chr19:18390227-18390749	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:18388631-18392724	GM12878	blood:	n/a	n/a
35	MAZ	chr19:18389512-18391564	HepG2	liver:	n/a	n/a
36	CTCF	chr19:18390165-18390607	K562	blood:	n/a	n/a
37	ARID3A	chr19:18389818-18390682	HepG2	liver:	n/a	n/a
38	CTCF	chr19:18390055-18390713	K562	blood:	n/a	n/a
39	TBP	chr19:18390247-18390950	H1-hESC	embryonic stem cell:	n/a	n/a
40	MBD4	chr19:18389967-18390855	HepG2	liver:	n/a	n/a
41	HA-E2F1	chr19:18390030-18390813	MCF-7	breast:	n/a	chr19:18390511-18390521 chr19:18390359-18390374 chr19:18390359-18390369 chr19:18390530-18390540
42	BCLAF1	chr19:18390116-18391731	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:18390050-18390583	K562	blood:	n/a	n/a
44	POLR2A	chr19:18388705-18392782	H1-hESC	embryonic stem cell:	n/a	n/a
45	TCF3	chr19:18390178-18390629	GM12878	blood:	n/a	n/a
46	HEY1	chr19:18389943-18390682	HepG2	liver:	n/a	chr19:18390515-18390530
47	POLR2A	chr19:18388652-18391631	U87	brain:	n/a	n/a
48	CTCF	chr19:18390251-18390512	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr19:18390161-18390699	SK-N-SH_RA	brain:	n/a	n/a
50	GATA1	chr19:18390157-18391673	PBDE	blood:	n/a	n/a

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
2	chr19:18389965..18390859-chr19:18432817..18433745,4	MCF-7	breast:
3	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
4	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
5	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
6	chr19:18389169..18391132-chr19:18534059..18535898,2	K562	blood:
7	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
8	chr19:18102794..18104652-chr19:18390002..18391507,2	K562	blood:
9	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
10	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
11	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
12	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
13	chr19:18262621..18264588-chr19:18388729..18391542,2	MCF-7	breast:
14	chr19:18283857..18287210-chr19:18388230..18390509,3	K562	blood:
15	chr19:18389586..18390376-chr19:18439009..18439886,2	MCF-7	breast:
16	chr19:18337559..18339091-chr19:18388443..18390350,2	MCF-7	breast:
17	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
18	chr19:18389852..18391307-chr19:18434096..18435200,12	MCF-7	breast:
19	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
20	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
21	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
22	chr19:18390152..18390835-chr19:18402706..18403213,2	Hela-S3	cervix:
23	chr19:18389884..18390601-chr2:71221403..71222099,2	Hela-S3	cervix:
24	chr19:18313702..18316146-chr19:18389721..18392001,2	MCF-7	breast:
25	chr19:18375824..18378589-chr19:18388804..18391228,3	MCF-7	breast:
26	chr19:18223413..18225267-chr19:18389021..18391701,2	MCF-7	breast:
27	chr19:18276990..18278607-chr19:18389377..18392205,2	K562	blood:
28	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
29	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
30	chr19:18389320..18390897-chr19:18488070..18489594,2	MCF-7	breast:
31	chr19:17970685..17972578-chr19:18389953..18392713,2	K562	blood:
32	chr19:18389073..18391254-chr19:18491178..18493280,2	K562	blood:
33	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
34	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
35	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
36	chr19:18389875..18390480-chr19:18438810..18439374,3	MCF-7	breast:
37	chr19:18321259..18323821-chr19:18388878..18390408,2	K562	blood:
38	chr19:18389237..18391890-chr19:18553028..18555362,2	K562	blood:
39	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
40	chr19:18389877..18390868-chr19:18433805..18434780,6	K562	blood:
41	chr19:18387663..18390272-chr19:18513098..18515988,2	K562	blood:
42	chr19:18328659..18330867-chr19:18389570..18391557,2	K562	blood:
43	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
44	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
45	chr19:18388723..18391469-chr19:18447700..18450655,3	MCF-7	breast:
46	chr19:18342752..18344966-chr19:18388974..18391959,2	K562	blood:
47	chr19:18389771..18390844-chr19:18438850..18439790,3	K562	blood:
48	chr19:18300044..18302631-chr19:18389476..18391618,2	K562	blood:
49	chr19:18263876..18266605-chr19:18389709..18392510,4	K562	blood:
50	chr19:18311642..18316628-chr19:18388957..18392513,10	K562	blood:

No data

Variant related genes	Relation type
MIR3188	TF binding region
KIAA1683	TF binding region
ENSG00000268650	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000258881	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000256989	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000144043	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000228384	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57734410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57934386	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58997823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59783649	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60235938	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6512255	0.81[EUR][1000 genomes]
rs73005418	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	136 gene(s)	inside rSNPs	diseases
4	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
8	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
9	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
10	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
11	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
12	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
13	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
14	nsv578744	chr19:18380072-18392873	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
15	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
16	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18388200-18390400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
2	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
4	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
5	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
8	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
11	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
12	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Placenta	Placenta
13	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
14	chr19:18388800-18390400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
15	chr19:18388800-18390400	Transcr. at gene 5' and 3'	A549	lung
16	chr19:18388800-18390400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
17	chr19:18388800-18390600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
18	chr19:18388800-18390800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:18388800-18390800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
20	chr19:18388800-18391600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:18388800-18391600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
22	chr19:18389000-18390400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:18389000-18390400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
24	chr19:18389000-18390400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
25	chr19:18389000-18390400	Transcr. at gene 5' and 3'	Right Ventricle	heart
26	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
27	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
30	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr19:18389000-18392000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
33	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
34	chr19:18389200-18390400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr19:18389200-18390400	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
36	chr19:18389400-18390400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:18389600-18390400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr19:18389600-18390400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
39	chr19:18389600-18390400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:18389600-18390400	Flanking Active TSS	HUVEC	blood vessel
41	chr19:18389600-18392400	Active TSS	HSMMtube	muscle
42	chr19:18389800-18390400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr19:18389800-18390400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
44	chr19:18389800-18390400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:18389800-18390400	Flanking Active TSS	Fetal Heart	heart
46	chr19:18389800-18393200	Active TSS	Aorta	Aorta
47	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
48	chr19:18389800-18393600	Active TSS	Ovary	ovary
49	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr19:18390000-18390400	Flanking Active TSS	Primary B cells from cord blood	blood

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