Variant report

Variant	rs17849624
Chromosome Location	chr19:41770679-41770680
allele	G/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	SP1	chr19:41768812-41771402	HCT-116	colon:	n/a	chr19:41770157-41770178 chr19:41770908-41770917 chr19:41771123-41771132 chr19:41769743-41769755 chr19:41770714-41770726 chr19:41771119-41771133 chr19:41770051-41770065 chr19:41770903-41770917 chr19:41770906-41770918 chr19:41769814-41769835 chr19:41770716-41770725 chr19:41770902-41770915 chr19:41770907-41770917 chr19:41769745-41769754 chr19:41770907-41770916 chr19:41770050-41770062 chr19:41770714-41770726 chr19:41770715-41770724 chr19:41770906-41770918
2	REST	chr19:41770030-41771205	HL-60	blood:	n/a	chr19:41770353-41770362
3	MAX	chr19:41769561-41770787	K562	blood:	n/a	chr19:41770252-41770262
4	POLR2A	chr19:41768093-41771218	Raji	blood:	n/a	n/a
5	REST	chr19:41770004-41770710	HepG2	liver:	n/a	chr19:41770353-41770362
6	UBTF	chr19:41769980-41772007	K562	blood:	n/a	n/a
7	POLR2A	chr19:41769975-41771300	H1-neurons	neurons:	n/a	n/a
8	YY1	chr19:41769466-41770957	K562	blood:	n/a	chr19:41770267-41770276 chr19:41770722-41770733 chr19:41770274-41770282 chr19:41770270-41770282 chr19:41770271-41770281 chr19:41770262-41770276 chr19:41770271-41770293 chr19:41770712-41770726
9	GABPA	chr19:41768947-41771242	A549	lung:	n/a	n/a
10	POLR2A	chr19:41768085-41771893	GM19193	blood:	n/a	n/a
11	TBP	chr19:41768989-41772071	K562	blood:	n/a	n/a
12	MTA3	chr19:41768794-41771880	GM12878	blood:	n/a	n/a
13	UBTF	chr19:41770178-41771019	K562	blood:	n/a	n/a
14	MYC	chr19:41768923-41771027	K562	blood:	n/a	chr19:41770252-41770262
15	MYC	chr19:41768970-41771026	K562	blood:	n/a	chr19:41770252-41770262
16	RFX5	chr19:41768867-41771382	SK-N-SH	brain:	n/a	chr19:41769824-41769833 chr19:41770167-41770176
17	JUND	chr19:41768915-41772213	A549	lung:	n/a	chr19:41770714-41770723 chr19:41769880-41769889 chr19:41769949-41769961 chr19:41770306-41770315 chr19:41770166-41770175 chr19:41769082-41769093
18	BHLHE40	chr19:41768890-41770683	GM12878	blood:	n/a	n/a
19	ELF1	chr19:41769569-41771653	GM12878	blood:	n/a	chr19:41770081-41770093 chr19:41770286-41770295 chr19:41770719-41770731 chr19:41770262-41770274
20	POLR2A	chr19:41767388-41771764	U87	brain:	n/a	n/a
21	POLR2A	chr19:41770056-41771086	GM10847	blood:	n/a	n/a
22	POLR2A	chr19:41768726-41771510	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:41768106-41771857	GM18505	blood:	n/a	n/a
24	POLR2A	chr19:41768798-41772064	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr19:41770662-41771309	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:41767678-41771748	Hela-S3	cervix:	n/a	n/a
27	YY1	chr19:41768901-41771505	A549	lung:	n/a	chr19:41770267-41770276 chr19:41770722-41770733 chr19:41770274-41770282 chr19:41770270-41770282 chr19:41770271-41770281 chr19:41770262-41770276 chr19:41771123-41771134 chr19:41770271-41770293 chr19:41770712-41770726
28	MYC	chr19:41769496-41770738	H1-hESC	embryonic stem cell:	n/a	chr19:41770252-41770262
29	POLR2A	chr19:41767844-41772185	SK-N-MC	brain:	n/a	n/a
30	MYC	chr19:41769488-41770682	Hela-S3	cervix:	n/a	chr19:41770252-41770262
31	MYC	chr19:41769974-41771018	MCF-7	breast:	n/a	chr19:41770252-41770262
32	POLR2A	chr19:41768821-41771388	HL-60	blood:	n/a	n/a
33	POLR2A	chr19:41768047-41772143	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr19:41768868-41770850	MCF-7	breast:	n/a	chr19:41770252-41770262
35	TAF1	chr19:41769031-41771145	SK-N-SH	brain:	n/a	n/a
36	TAF7	chr19:41770016-41771092	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr19:41768815-41771564	A549	lung:	n/a	chr19:41770252-41770262
38	PML	chr19:41767871-41771809	GM12878	blood:	n/a	n/a
39	CEBPD	chr19:41769925-41771106	HepG2	liver:	n/a	n/a
40	MAZ	chr19:41767177-41772220	IMR90	lung:	n/a	chr19:41768441-41768450 chr19:41768481-41768490 chr19:41771759-41771769 chr19:41768482-41768493 chr19:41770252-41770262
41	SIN3AK20	chr19:41768779-41772033	A549	lung:	n/a	n/a
42	MAX	chr19:41769587-41771137	MCF-7	breast:	n/a	chr19:41770252-41770262
43	POLR2A	chr19:41768951-41771395	A549	lung:	n/a	n/a
44	POLR2A	chr19:41768174-41771130	K562	blood:	n/a	n/a
45	POLR2A	chr19:41768869-41771267	ECC-1	luminal epithelium:	n/a	n/a
46	HEY1	chr19:41768984-41772078	HepG2	liver:	n/a	chr19:41770714-41770729 chr19:41770719-41770734 chr19:41770075-41770090 chr19:41770716-41770731
47	GATA3	chr19:41767680-41771473	A549	lung:	n/a	chr19:41769052-41769060 chr19:41769485-41769493 chr19:41769049-41769062
48	POLR2A	chr19:41767879-41773979	GM12878	blood:	n/a	n/a
49	MAZ	chr19:41769488-41771971	K562	blood:	n/a	chr19:41771759-41771769 chr19:41770252-41770262
50	TCF12	chr19:41767598-41772879	A549	lung:	n/a	chr19:41771163-41771170

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41770635-41770685	AG09319	gingival:	n/a
2	chr19:41770635-41770685	HIPEpiC	eye:	n/a
3	chr19:41770635-41770685	HepG2	liver:	n/a
4	chr19:41770635-41770685	LNCaP	prostate:	n/a
5	chr19:41770635-41770685	H1-hESC	embryonic stem cell:	embryo
6	chr19:41770635-41770685	HRE	kidney:	n/a
7	chr19:41770635-41770685	HCPEpiC	choroid plexus:	n/a
8	chr19:41770635-41770685	NH-A	brain:	n/a
9	chr19:41770635-41770685	GM12892	blood:	n/a
10	chr19:41770635-41770685	CMK	blood:	n/a
11	chr19:41770635-41770685	ovcar-3	ovarian:	n/a
12	chr19:41770635-41770685	GM12891	blood:	n/a
13	chr19:41770635-41770685	ECC-1	luminal epithelium:	n/a
14	chr19:41770635-41770685	HCM	heart:	n/a
15	chr19:41770635-41770685	AG09309	skin:	n/a
16	chr19:41770635-41770685	Jurkat	blood:	n/a
17	chr19:41770635-41770685	NT2-D1	testis:	n/a
18	chr19:41770635-41770685	SAEC	small airway:	n/a
19	chr19:41770635-41770685	HUVEC	blood vessel:	n/a
20	chr19:41770635-41770685	MCF10A-Er-Src	breast:	n/a
21	chr19:41770635-41770685	AG04450	lung:	fetal
22	chr19:41770635-41770685	HCT-116	colon:	n/a
23	chr19:41770635-41770685	PFSK-1	brain:	n/a
24	chr19:41770635-41770685	GM12878	blood:	n/a
25	chr19:41770635-41770685	HRPEpiC	eye:	n/a
26	chr19:41770635-41770685	Caco-2	colon:	n/a
27	chr19:41770635-41770685	NHBE	bronchial:	n/a
28	chr19:41770635-41770685	BJ	skin:	n/a
29	chr19:41770635-41770685	AG10803	skin:	n/a
30	chr19:41770635-41770685	U87	brain:	n/a
31	chr19:41770635-41770685	ProgFib	skin:	n/a
32	chr19:41770635-41770685	GM06990	blood:	n/a
33	chr19:41770635-41770685	Hela-S3	cervix:	n/a
34	chr19:41770635-41770685	HMEC	breast:	n/a
35	chr19:41770635-41770685	HAEpiC	amniotic membrane:	n/a
36	chr19:41770635-41770685	SKMC	muscle:	n/a
37	chr19:41770635-41770685	GM19239	blood:	n/a
38	chr19:41770635-41770685	HEK293	kidney:	embryo
39	chr19:41770635-41770685	BE2_C	brain:	n/a
40	chr19:41770635-41770685	SK-N-SH	brain:	n/a
41	chr19:41770635-41770685	Hepatocyte	liver:	n/a
42	chr19:41770635-41770685	RPTEC	kidney:	n/a
43	chr19:41770635-41770685	A549	lung:	n/a
44	chr19:41770635-41770685	HL-60	blood:	n/a
45	chr19:41770635-41770685	NB4	blood:	n/a
46	chr19:41770635-41770685	HRCEpiC	kidney:	n/a
47	chr19:41770635-41770685	HNPCEpiC	eye:	n/a
48	chr19:41770635-41770685	PANC-1	pancreas:	n/a
49	chr19:41770635-41770685	HEEpiC	esophagus:	n/a
50	chr19:41770635-41770685	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
2	chr19:41769310..41770884-chr19:41804144..41807027,2	MCF-7	breast:
3	chr19:41703762..41708765-chr19:41768363..41772371,6	MCF-7	breast:
4	chr19:41770026..41770935-chr2:223725702..223726222,2	Hela-S3	cervix:
5	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
6	chr19:41770083..41771772-chr19:41780839..41782366,2	MCF-7	breast:
7	chr19:41219692..41221966-chr19:41769353..41771568,2	MCF-7	breast:
8	chr19:41769421..41772801-chr19:41806181..41809917,4	MCF-7	breast:
9	chr19:41726065..41727668-chr19:41770273..41771927,2	K562	blood:
10	chr19:41769787..41771602-chr19:41823393..41825966,2	MCF-7	breast:
11	chr19:41307021..41309215-chr19:41770332..41772001,2	MCF-7	breast:
12	chr19:41769462..41771518-chr9:139890234..139892822,2	MCF-7	breast:
13	chr19:41770477..41773138-chr19:41858876..41861675,2	MCF-7	breast:
14	chr14:96968705..96969471-chr19:41770213..41770930,2	Hela-S3	cervix:
15	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
16	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
17	chr19:41697323..41700714-chr19:41769063..41770894,3	K562	blood:
18	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
19	chr19:41723294..41725372-chr19:41769177..41770875,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPUL1	TF binding region
HNRNPUL1	CpG island
ENSG00000142039	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123983	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000255730	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8179181	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr19:41767400-41772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:41767600-41771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr19:41767600-41771400	Active TSS	Fetal Stomach	stomach
4	chr19:41767600-41771800	Active TSS	Right Ventricle	heart
5	chr19:41767600-41772200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:41767600-41772200	Active TSS	Psoas Muscle	Psoas
7	chr19:41767600-41772400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:41767600-41772400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr19:41767800-41771200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr19:41767800-41771200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:41767800-41771400	Active TSS	Primary T cells from cord blood	blood
12	chr19:41767800-41771400	Active TSS	Brain Angular Gyrus	brain
13	chr19:41767800-41771400	Active TSS	Colon Smooth Muscle	Colon
14	chr19:41767800-41771800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:41767800-41771800	Active TSS	Fetal Kidney	kidney
16	chr19:41767800-41772000	Active TSS	Aorta	Aorta
17	chr19:41767800-41772200	Active TSS	Esophagus	oesophagus
18	chr19:41767800-41772200	Active TSS	Lung	lung
19	chr19:41767800-41772400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:41767800-41772400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr19:41767800-41772400	Active TSS	Right Atrium	heart
22	chr19:41767800-41772600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:41767800-41773200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:41768000-41771200	Active TSS	Colonic Mucosa	Colon
25	chr19:41768000-41771400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:41768000-41771400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr19:41768000-41771400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr19:41768000-41771600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr19:41768000-41771600	Active TSS	Placenta	Placenta
30	chr19:41768000-41771600	Active TSS	Left Ventricle	heart
31	chr19:41768000-41771600	Active TSS	Rectal Smooth Muscle	rectum
32	chr19:41768000-41771600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr19:41768000-41771800	Active TSS	Fetal Intestine Large	intestine
34	chr19:41768000-41772000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:41768000-41772000	Active TSS	Gastric	stomach
36	chr19:41768000-41772200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:41768000-41772200	Active TSS	Ovary	ovary
38	chr19:41768000-41772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:41768000-41772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:41768000-41772400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:41768000-41772400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:41768000-41772400	Active TSS	HSMMtube	muscle
43	chr19:41768000-41772600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:41768200-41771000	Active TSS	A549	lung
45	chr19:41768200-41771200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr19:41768200-41771200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:41768200-41771400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:41768200-41771400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr19:41768200-41771400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:41768200-41771400	Active TSS	Liver	Liver

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