Variant report

Variant	rs183852
Chromosome Location	chr19:40950309-40950310
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	EP300	chr19:40950140-40950893	K562	blood:	n/a	chr19:40950596-40950612
2	POLR2A	chr19:40948132-40950705	GM12878	blood:	n/a	n/a
3	CHD2	chr19:40950013-40950587	HepG2	liver:	n/a	n/a
4	ELF1	chr19:40949872-40950888	GM12878	blood:	n/a	n/a
5	TAF1	chr19:40948869-40950722	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr19:40949766-40950358	PFSK-1	brain:	n/a	n/a
7	MYC	chr19:40950170-40951112	NB4	blood:	n/a	chr19:40950412-40950422
8	ZBTB7A	chr19:40949755-40951149	ECC-1	luminal epithelium:	n/a	chr19:40950733-40950742
9	POLR2A	chr19:40949903-40950349	GM12891	blood:	n/a	n/a
10	BHLHE40	chr19:40950046-40950951	HepG2	liver:	n/a	chr19:40950259-40950275
11	POLR2A	chr19:40949800-40950961	GM18951	blood:	n/a	n/a
12	UBTF	chr19:40949095-40950948	K562	blood:	n/a	n/a
13	CTCF	chr19:40950285-40950404	Spleen_OC	spleen:	n/a	n/a
14	EGR1	chr19:40949913-40950898	K562	blood:	n/a	chr19:40950041-40950054 chr19:40950418-40950428 chr19:40950599-40950609 chr19:40950623-40950633 chr19:40950365-40950380 chr19:40950042-40950053 chr19:40950041-40950054 chr19:40950036-40950058 chr19:40950366-40950379 chr19:40950040-40950054 chr19:40950042-40950052
15	RCOR1	chr19:40950109-40950981	GM12878	blood:	n/a	n/a
16	ZNF143	chr19:40950113-40950989	GM12878	blood:	n/a	chr19:40950652-40950670
17	ZMIZ1	chr19:40948914-40950599	K562	blood:	n/a	n/a
18	MAX	chr19:40950089-40950910	SK-N-SH	brain:	n/a	chr19:40950412-40950422
19	POLR2A	chr19:40948387-40950986	GM12878	blood:	n/a	n/a
20	RFX5	chr19:40949998-40950903	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:40949930-40950741	Gliobla	brain:	n/a	n/a
22	POLR2A	chr19:40948704-40951115	SK-N-SH	brain:	n/a	n/a
23	HEY1	chr19:40949750-40950383	K562	blood:	n/a	chr19:40950303-40950318
24	SIN3AK20	chr19:40950014-40950693	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:40949967-40950892	HepG2	liver:	n/a	n/a
26	CREB1	chr19:40950152-40950945	H1-hESC	embryonic stem cell:	n/a	n/a
27	ETS1	chr19:40950245-40950707	K562	blood:	n/a	chr19:40950416-40950427 chr19:40950368-40950381
28	ZNF384	chr19:40950133-40950349	K562	blood:	n/a	n/a
29	SP1	chr19:40950086-40950962	H1-hESC	embryonic stem cell:	n/a	chr19:40950418-40950428 chr19:40950750-40950762 chr19:40950599-40950611 chr19:40950419-40950428 chr19:40950258-40950270 chr19:40950310-40950331 chr19:40950259-40950268 chr19:40950750-40950762 chr19:40950258-40950270 chr19:40950576-40950585 chr19:40950418-40950427 chr19:40950687-40950708 chr19:40950731-40950745 chr19:40950417-40950429 chr19:40950752-40950761 chr19:40950277-40950298 chr19:40950260-40950269 chr19:40950599-40950611 chr19:40950414-40950428 chr19:40950259-40950268 chr19:40950419-40950428 chr19:40950418-40950428 chr19:40950417-40950429 chr19:40950327-40950339 chr19:40950601-40950610
30	MAFK	chr19:40948962-40950987	Hela-S3	cervix:	n/a	n/a
31	PML	chr19:40948847-40950428	K562	blood:	n/a	n/a
32	MXI1	chr19:40949980-40951103	K562	blood:	n/a	chr19:40950713-40950728
33	MAX	chr19:40949939-40950861	MCF-7	breast:	n/a	chr19:40950412-40950422
34	HEY1	chr19:40949709-40950994	HepG2	liver:	n/a	chr19:40950303-40950318
35	E2F6	chr19:40948514-40951102	A549	lung:	n/a	chr19:40949317-40949327 chr19:40949031-40949040 chr19:40950600-40950609 chr19:40950418-40950427 chr19:40950288-40950297 chr19:40950040-40950049 chr19:40949079-40949088 chr19:40950749-40950761 chr19:40950321-40950330 chr19:40950628-40950637
36	STAT1	chr19:40950188-40950966	GM12878	blood:	n/a	chr19:40950845-40950857 chr19:40950748-40950760
37	SIN3A	chr19:40948389-40951105	H1-hESC	embryonic stem cell:	n/a	n/a
38	EGR1	chr19:40949873-40951016	K562	blood:	n/a	chr19:40950041-40950054 chr19:40950418-40950428 chr19:40950599-40950609 chr19:40950623-40950633 chr19:40950365-40950380 chr19:40950042-40950053 chr19:40950041-40950054 chr19:40950036-40950058 chr19:40950366-40950379 chr19:40950040-40950054 chr19:40950042-40950052
39	RAD21	chr19:40949898-40951176	A549	lung:	n/a	chr19:40950333-40950345 chr19:40950415-40950425
40	BHLHE40	chr19:40949921-40950590	A549	lung:	n/a	chr19:40950259-40950275
41	SP2	chr19:40950093-40950497	K562	blood:	n/a	chr19:40950258-40950273
42	POLR2A	chr19:40948901-40950987	K562	blood:	n/a	n/a
43	YY1	chr19:40950238-40950570	H1-hESC	embryonic stem cell:	n/a	chr19:40950302-40950313 chr19:40950418-40950427
44	E2F4	chr19:40950141-40950988	GM12878	blood:	n/a	chr19:40950600-40950609 chr19:40950418-40950427 chr19:40950288-40950297 chr19:40950749-40950761 chr19:40950321-40950330 chr19:40950628-40950637
45	RAD21	chr19:40948323-40951204	SK-N-SH	brain:	n/a	chr19:40950333-40950345 chr19:40949204-40949216 chr19:40949202-40949215 chr19:40950415-40950425
46	ZBTB7A	chr19:40949762-40951072	K562	blood:	n/a	chr19:40950733-40950742
47	POLR2A	chr19:40944883-40955137	K562	blood:	n/a	n/a
48	ELF1	chr19:40950180-40950795	K562	blood:	n/a	n/a
49	MYC	chr19:40950083-40950615	MCF-7	breast:	n/a	chr19:40950412-40950422
50	POLR2A	chr19:40948607-40950833	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40949933..40950643-chr5:130970110..130971532,3	Hela-S3	cervix:
2	chr19:40947808..40950751-chr19:41110223..41112466,3	MCF-7	breast:
3	chr19:40949716..40951577-chr19:41110913..41113250,2	MCF-7	breast:
4	chr19:40949347..40951622-chr19:41220868..41223140,2	MCF-7	breast:
5	chr19:40907794..40914181-chr19:40946949..40951155,9	K562	blood:
6	chr19:40871399..40873177-chr19:40948575..40950979,2	K562	blood:
7	chr17:57914950..57917553-chr19:40948903..40951502,2	MCF-7	breast:
8	chr19:40929000..40933496-chr19:40948111..40953156,29	MCF-7	breast:
9	chr19:40948007..40950924-chr19:41075295..41077576,2	MCF-7	breast:
10	chr19:40948223..40951399-chr19:41100513..41104736,3	MCF-7	breast:
11	chr19:40948595..40953789-chr19:40967165..40973013,15	MCF-7	breast:
12	chr19:40948243..40950971-chr19:41074980..41077167,2	MCF-7	breast:
13	chr19:39341689..39344249-chr19:40949611..40951303,2	K562	blood:
14	chr19:40913782..40916099-chr19:40948894..40950431,2	MCF-7	breast:
15	chr19:40780031..40782205-chr19:40949064..40951116,2	K562	blood:
16	chr19:40876170..40877950-chr19:40949135..40950845,2	K562	blood:
17	chr19:40851266..40855955-chr19:40945466..40950850,6	K562	blood:
18	chr19:40947599..40953337-chr19:40966407..40973377,15	K562	blood:
19	chr19:40852692..40855852-chr19:40948280..40952207,5	K562	blood:
20	chr19:12792238..12792761-chr19:40950186..40951118,2	Hela-S3	cervix:
21	chr19:40949565..40951989-chr19:41219354..41222014,2	K562	blood:
22	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:
23	chr19:40948346..40950528-chr19:41082031..41084559,2	K562	blood:
24	chr1:207494286..207495188-chr19:40949682..40950492,2	Hela-S3	cervix:
25	chr19:40949356..40951843-chr19:41083113..41086048,2	MCF-7	breast:
26	chr19:40948713..40950768-chr19:41219384..41222098,2	K562	blood:
27	chr19:40931575..40932448-chr19:40950265..40951155,2	MCF-7	breast:
28	chr19:40949960..40950886-chr2:44588425..44589020,2	Hela-S3	cervix:
29	chr19:40929942..40935093-chr19:40947472..40955743,23	K562	blood:
30	chr19:40948471..40950992-chr19:40962723..40965462,2	K562	blood:
31	chr19:40949481..40951384-chr19:41114617..41116181,2	MCF-7	breast:
32	chr19:40948471..40952327-chr19:40962723..40965926,3	K562	blood:
33	chr19:40945484..40955522-chr19:40966442..40973559,31	MCF-7	breast:
34	chr15:65596976..65597682-chr19:40949977..40950918,2	Hela-S3	cervix:
35	chr19:40947836..40953426-chr19:40969681..40973823,16	K562	blood:
36	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
37	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
38	chr19:40842267..40845117-chr19:40949082..40951268,2	MCF-7	breast:
39	chr19:40948473..40950774-chr19:41118397..41120012,2	MCF-7	breast:

Variant related genes	Relation type
SERTAD3	TF binding region
ENSG00000200156	Chromatin interaction
ENSG00000095059	Chromatin interaction
ENSG00000138078	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000158987	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000266164	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000205041	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000207281	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000105227	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs187908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268658	1.00[AMR][1000 genomes]
rs268660	1.00[AMR][1000 genomes]
rs268661	1.00[AMR][1000 genomes]
rs268665	1.00[AMR][1000 genomes]
rs268667	1.00[AMR][1000 genomes]
rs268675	1.00[AMR][1000 genomes]
rs268681	1.00[AMR][1000 genomes]
rs4150994	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
6	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 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	chr19:40948200-40950800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:40948200-40951200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:40948200-40951200	Active TSS	GM12878-XiMat	blood
4	chr19:40948400-40950800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr19:40948400-40951000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:40948400-40951000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:40948400-40951000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:40948400-40951000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:40948400-40951000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:40948400-40951000	Active TSS	Esophagus	oesophagus
11	chr19:40948400-40951200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:40948400-40951200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:40948400-40951200	Active TSS	HSMMtube	muscle
14	chr19:40948600-40950800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:40948600-40950800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:40948600-40950800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:40948600-40950800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:40948600-40950800	Active TSS	HMEC	breast
19	chr19:40948600-40950800	Active TSS	Osteobl	bone
20	chr19:40948600-40951000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:40948600-40951000	Active TSS	Lung	lung
22	chr19:40948600-40951000	Active TSS	Ovary	ovary
23	chr19:40948600-40951000	Active TSS	Psoas Muscle	Psoas
24	chr19:40948600-40951200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:40948600-40951200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:40948600-40951200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40948600-40951200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:40948600-40951200	Active TSS	Aorta	Aorta
29	chr19:40948600-40951200	Active TSS	Brain Angular Gyrus	brain
30	chr19:40948600-40951200	Active TSS	NHDF-Ad	bronchial
31	chr19:40948600-40951800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:40948800-40950600	Active TSS	Gastric	stomach
33	chr19:40948800-40950800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:40948800-40950800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:40948800-40950800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:40948800-40950800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:40948800-40950800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:40948800-40950800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:40948800-40950800	Active TSS	Colonic Mucosa	Colon
40	chr19:40948800-40950800	Active TSS	Fetal Brain Male	brain
41	chr19:40948800-40950800	Active TSS	Fetal Kidney	kidney
42	chr19:40948800-40950800	Active TSS	Fetal Muscle Leg	muscle
43	chr19:40948800-40950800	Active TSS	Fetal Stomach	stomach
44	chr19:40948800-40950800	Active TSS	Pancreas	Pancrea
45	chr19:40948800-40950800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr19:40948800-40950800	Active TSS	A549	lung
47	chr19:40948800-40950800	Active TSS	HUVEC	blood vessel
48	chr19:40948800-40950800	Active TSS	K562	blood
49	chr19:40948800-40950800	Active TSS	NHEK	skin
50	chr19:40948800-40950800	Active TSS	NHLF	lung

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