Variant report

Variant	rs41374444
Chromosome Location	chr19:18389069-18389070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:18388695-18394026	HepG2	liver:	n/a	chr19:18390515-18390530 chr19:18392424-18392439 chr19:18393317-18393332
2	POLR2A	chr19:18382150-18392613	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:18388084-18394020	GM12891	blood:	n/a	n/a
4	TEAD4	chr19:18388792-18389269	K562	blood:	n/a	n/a
5	BRCA1	chr19:18388916-18389160	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:18388712-18391582	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:18388704-18391047	GM12891	blood:	n/a	n/a
8	CHD2	chr19:18388743-18390759	K562	blood:	n/a	n/a
9	POLR2A	chr19:18388625-18393808	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:18388631-18392724	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:18388738-18389298	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr19:18388821-18389216	U87	brain:	n/a	n/a
13	NFATC1	chr19:18388848-18389267	GM12878	blood:	n/a	n/a
14	MAFK	chr19:18388964-18389151	HepG2	liver:	n/a	n/a
15	RCOR1	chr19:18388826-18389242	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:18388736-18389274	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:18388705-18392782	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:18388652-18391631	U87	brain:	n/a	n/a
19	POLR2A	chr19:18385002-18394564	K562	blood:	n/a	n/a
20	POLR2A	chr19:18388996-18393928	HCT-116	colon:	n/a	n/a
21	POLR2A	chr19:18382160-18394577	MCF10A-Er-Src	breast:	n/a	n/a
22	POU2F2	chr19:18388713-18389994	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:18388726-18394103	HL-60	blood:	n/a	n/a
24	POLR2A	chr19:18388084-18392768	GM12891	blood:	n/a	n/a
25	POLR2A	chr19:18388733-18393961	HL-60	blood:	n/a	n/a
26	RCOR1	chr19:18388903-18389236	K562	blood:	n/a	n/a
27	SMC3	chr19:18388927-18389075	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:18382204-18393752	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr19:18388778-18391640	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:18384125-18394577	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr19:18388801-18393779	HepG2	liver:	n/a	n/a
32	CCNT2	chr19:18388905-18389105	K562	blood:	n/a	n/a
33	POLR2A	chr19:18388773-18391623	GM12891	blood:	n/a	n/a
34	MAZ	chr19:18388958-18389201	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:18388711-18390169	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:18388766-18394040	GM12878	blood:	n/a	n/a
37	POU2F2	chr19:18388725-18389738	GM12891	blood:	n/a	n/a
38	POLR2A	chr19:18388752-18389313	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr19:18388745-18393738	GM12878	blood:	n/a	n/a
40	POU2F2	chr19:18388770-18389234	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:18388704-18391711	GM12892	blood:	n/a	n/a
42	PML	chr19:18388814-18389424	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:18388678-18392774	K562	blood:	n/a	n/a
44	POLR2A	chr19:18382072-18393931	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr19:18388098-18393695	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:18388824-18390922	K562	blood:	n/a	n/a
47	POLR2A	chr19:18388709-18393663	Hela-S3	cervix:	n/a	n/a
48	STAT5A	chr19:18388750-18389301	GM12878	blood:	n/a	n/a
49	TRIM28	chr19:18388710-18390514	K562	blood:	n/a	n/a
50	POLR2A	chr19:18388689-18391741	GM12892	blood:	n/a	n/a

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
2	chr19:18388991..18389671-chr5:42992257..42993081,2	Hela-S3	cervix:
3	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
4	chr19:18387480..18389163-chr19:18512842..18514598,2	K562	blood:
5	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
6	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
7	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
8	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
9	chr19:18387502..18390021-chr9:123629758..123632738,2	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	chr19:18343280..18346156-chr19:18388321..18390224,2	K562	blood:
16	chr19:18337559..18339091-chr19:18388443..18390350,2	MCF-7	breast:
17	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
18	chr19:18388631..18389216-chr2:165072068..165072588,2	MCF-7	breast:
19	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
20	chr19:18302787..18307396-chr19:18383842..18390051,8	K562	blood:
21	chr19:18389024..18389840-chr19:18433961..18434770,2	MCF-7	breast:
22	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
23	chr19:18388963..18390088-chr19:18434096..18435108,4	MCF-7	breast:
24	chr19:18375824..18378589-chr19:18388804..18391228,3	MCF-7	breast:
25	chr19:18223413..18225267-chr19:18389021..18391701,2	MCF-7	breast:
26	chr16:69220878..69221566-chr19:18388807..18389377,2	Hela-S3	cervix:
27	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
28	chr19:18232174..18234032-chr19:18387928..18389889,2	K562	blood:
29	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
30	chr19:18388413..18390013-chr19:18483305..18484834,2	MCF-7	breast:
31	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
32	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
33	chr19:18321259..18323821-chr19:18388878..18390408,2	K562	blood:
34	chr19:18387663..18390272-chr19:18513098..18515988,2	K562	blood:
35	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
36	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
37	chr19:18388723..18391469-chr19:18447700..18450655,3	MCF-7	breast:
38	chr19:18342752..18344966-chr19:18388974..18391959,2	K562	blood:
39	chr19:18311642..18316628-chr19:18388957..18392513,10	K562	blood:
40	chr19:18388611..18389307-chrX:21958336..21959275,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MIR3188	TF binding region
KIAA1683	TF binding region
ENSG00000130520	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000168807	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000102172	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000269145	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10419232	0.88[EUR][1000 genomes]
rs10424974	0.80[ASN][1000 genomes]
rs16982288	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16982291	1.00[ASN][1000 genomes]
rs16982301	0.85[ASN][1000 genomes]
rs41401751	1.00[ASN][1000 genomes]
rs56069717	0.88[EUR][1000 genomes]
rs56123634	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57934386	0.82[AMR][1000 genomes]
rs59783649	0.82[AMR][1000 genomes]
rs60235938	0.82[AMR][1000 genomes]
rs6512255	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254275	1.00[ASN][1000 genomes]
rs73005418	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
2	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18384600-18389800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr19:18385400-18390200	Genic enhancers	Spleen	Spleen
5	chr19:18385600-18389600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:18386000-18390000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:18386800-18389600	Weak transcription	HSMMtube	muscle
8	chr19:18387200-18389600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:18388200-18389200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:18388200-18389600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:18388200-18389600	Genic enhancers	Brain Anterior Caudate	brain
12	chr19:18388200-18390400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr19:18388400-18389200	Genic enhancers	Gastric	stomach
14	chr19:18388400-18389600	Genic enhancers	Lung	lung
15	chr19:18388600-18390200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:18388800-18389200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:18388800-18389200	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr19:18388800-18389200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:18388800-18389200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:18388800-18389200	Flanking Active TSS	HUVEC	blood vessel
21	chr19:18388800-18389200	Transcr. at gene 5' and 3'	NH-A	brain
22	chr19:18388800-18389400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:18388800-18389400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
24	chr19:18388800-18389400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr19:18388800-18389400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:18388800-18389600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr19:18388800-18389600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:18388800-18389600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:18388800-18389600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr19:18388800-18389600	Genic enhancers	Brain Substantia Nigra	brain
31	chr19:18388800-18389600	Genic enhancers	Esophagus	oesophagus
32	chr19:18388800-18389600	Genic enhancers	Left Ventricle	heart
33	chr19:18388800-18389600	Genic enhancers	Stomach Mucosa	stomach
34	chr19:18388800-18389600	Genic enhancers	GM12878-XiMat	blood
35	chr19:18388800-18389600	Strong transcription	NHEK	skin
36	chr19:18388800-18389800	Enhancers	Fetal Heart	heart
37	chr19:18388800-18389800	Transcr. at gene 5' and 3'	Ovary	ovary
38	chr19:18388800-18389800	Enhancers	Psoas Muscle	Psoas
39	chr19:18388800-18389800	Flanking Active TSS	Right Atrium	heart
40	chr19:18388800-18390000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:18388800-18390000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Liver	Liver
45	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
46	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
47	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
48	chr19:18388800-18390000	Transcr. at gene 5' and 3'	Hela-S3	cervix
49	chr19:18388800-18390200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:18388800-18390200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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