Variant report

Variant	rs535992946
Chromosome Location	chr19:41283278-41283279
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	chr19:41282893-41284391	GM12878	blood:	n/a	chr19:41283206-41283222 chr19:41284255-41284271
2	TEAD4	chr19:41282840-41284622	K562	blood:	n/a	n/a
3	NR2F2	chr19:41283041-41285265	K562	blood:	n/a	n/a
4	EBF1	chr19:41282826-41284228	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:41282824-41285023	GM12878	blood:	n/a	n/a
6	PAX5	chr19:41283032-41283466	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41283024-41284454	GM12891	blood:	n/a	n/a
8	CEBPB	chr19:41282770-41283918	GM12878	blood:	n/a	chr19:41283651-41283659
9	POLR2A	chr19:41283077-41284413	GM10847	blood:	n/a	n/a
10	POLR2A	chr19:41283144-41284860	K562	blood:	n/a	n/a
11	TCF12	chr19:41282996-41283423	GM12878	blood:	n/a	n/a
12	NFYB	chr19:41283168-41284690	Hela-S3	cervix:	n/a	chr19:41283980-41283992 chr19:41283981-41283996
13	REST	chr19:41282716-41283908	A549	lung:	n/a	chr19:41283403-41283412
14	UBTF	chr19:41283249-41283374	K562	blood:	n/a	n/a
15	HEY1	chr19:41283131-41284814	HepG2	liver:	n/a	chr19:41284233-41284248 chr19:41284130-41284145 chr19:41284232-41284247
16	POLR2A	chr19:41283262-41284653	PANC-1	pancreas:	n/a	n/a
17	ZC3H11A	chr19:41283054-41283950	K562	blood:	n/a	n/a
18	FOXM1	chr19:41282787-41284249	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:41283261-41283439	A549	lung:	n/a	n/a
20	NFATC1	chr19:41282905-41283956	GM12878	blood:	n/a	n/a
21	ARID3A	chr19:41282972-41283984	HepG2	liver:	n/a	n/a
22	MEF2A	chr19:41282958-41283883	GM12878	blood:	n/a	chr19:41283669-41283686
23	POLR2A	chr19:41283125-41283429	GM12878	blood:	n/a	n/a
24	EP300	chr19:41283001-41283937	GM12878	blood:	n/a	chr19:41283206-41283222
25	MAZ	chr19:41283091-41284792	K562	blood:	n/a	n/a
26	POLR2A	chr19:41282793-41284992	H1-hESC	embryonic stem cell:	n/a	n/a
27	RUNX3	chr19:41282646-41285107	GM12878	blood:	n/a	n/a
28	STAT1	chr19:41283046-41284778	GM12878	blood:	n/a	chr19:41283681-41283704
29	RCOR1	chr19:41282761-41284733	GM12878	blood:	n/a	n/a
30	BHLHE40	chr19:41283062-41284796	K562	blood:	n/a	n/a
31	MXI1	chr19:41282747-41285282	IMR90	lung:	n/a	n/a
32	POLR2A	chr19:41282921-41284953	GM12892	blood:	n/a	n/a
33	POLR2A	chr19:41282937-41284819	GM12892	blood:	n/a	n/a
34	WRNIP1	chr19:41282893-41283901	GM12878	blood:	n/a	n/a
35	MAX	chr19:41283054-41284669	NB4	blood:	n/a	n/a
36	POLR2A	chr19:41282976-41283628	HL-60	blood:	n/a	n/a
37	RUNX3	chr19:41282787-41284935	GM12878	blood:	n/a	n/a
38	POU2F2	chr19:41282807-41284930	GM12878	blood:	n/a	chr19:41283177-41283187 chr19:41283177-41283187 chr19:41283849-41283861 chr19:41283179-41283186 chr19:41283176-41283188 chr19:41283178-41283187 chr19:41283176-41283190 chr19:41283849-41283863 chr19:41283179-41283187 chr19:41283178-41283188 chr19:41283178-41283189 chr19:41283175-41283190 chr19:41283178-41283189
39	NFYB	chr19:41283233-41284542	K562	blood:	n/a	chr19:41283980-41283992 chr19:41283981-41283996
40	BHLHE40	chr19:41283159-41285010	HepG2	liver:	n/a	n/a
41	MTA3	chr19:41282604-41285252	GM12878	blood:	n/a	n/a
42	TBL1XR1	chr19:41283243-41284330	K562	blood:	n/a	n/a
43	MYC	chr19:41283031-41284408	NB4	blood:	n/a	n/a
44	POLR2A	chr19:41283024-41284895	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr19:41283062-41284583	A549	lung:	n/a	n/a
46	SPI1	chr19:41283088-41283479	GM12878	blood:	n/a	n/a
47	TCF3	chr19:41282969-41283385	GM12878	blood:	n/a	n/a
48	RFX5	chr19:41282710-41285139	HepG2	liver:	n/a	chr19:41283514-41283523 chr19:41283511-41283525 chr19:41283651-41283660 chr19:41283510-41283525
49	CEBPB	chr19:41283254-41283744	H1-hESC	embryonic stem cell:	n/a	chr19:41283651-41283659
50	POLR2A	chr19:41283147-41284392	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41282962..41284842-chr19:41308232..41310693,2	MCF-7	breast:
2	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
3	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
4	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
5	chr19:41280553..41283413-chr19:41284684..41288209,4	MCF-7	breast:
6	chr19:41260895..41264688-chr19:41281653..41284501,3	MCF-7	breast:
7	chr19:41219466..41223288-chr19:41281896..41285456,5	MCF-7	breast:
8	chr19:41220807..41223667-chr19:41282098..41285361,4	MCF-7	breast:
9	chr19:41276921..41279823-chr19:41282678..41284570,2	MCF-7	breast:
10	chr19:41282306..41285368-chr19:41311943..41315414,5	MCF-7	breast:
11	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
12	chr19:41221538..41223321-chr19:41282786..41284711,2	K562	blood:
13	chr14:102505039..102506720-chr19:41282932..41285736,2	MCF-7	breast:
14	chr19:41282175..41285758-chr19:41311471..41315456,8	K562	blood:
15	chr19:41246510..41248162-chr19:41281990..41283890,2	K562	blood:
16	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
17	chr19:41282692..41284743-chr19:41312820..41314498,2	MCF-7	breast:
18	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
19	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
20	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
21	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
22	chr19:41220672..41223321-chr19:41282772..41284711,3	K562	blood:
23	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
24	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

Variant related genes	Relation type
RAB4B	TF binding region
RAB4B-EGLN2	TF binding region
ENSG00000167578	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000197102	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv13500	chr19:41283063-41285263	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	11 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	chr19:41273400-41283600	Weak transcription	Lung	lung
2	chr19:41282600-41283400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:41282600-41283400	Enhancers	Spleen	Spleen
4	chr19:41282600-41283400	Flanking Active TSS	Dnd41	blood
5	chr19:41282600-41283400	Flanking Active TSS	HMEC	breast
6	chr19:41282800-41283400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:41282800-41283400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:41282800-41283400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr19:41282800-41283400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:41282800-41283400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr19:41282800-41283400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:41282800-41283400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr19:41282800-41283400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:41282800-41283400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:41282800-41283400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:41282800-41283400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:41282800-41283400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr19:41282800-41283400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:41282800-41283400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr19:41282800-41283400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41282800-41283400	Flanking Active TSS	Fetal Brain Male	brain
22	chr19:41282800-41283400	Flanking Active TSS	Fetal Brain Female	brain
23	chr19:41282800-41283400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr19:41282800-41283400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr19:41282800-41283400	Flanking Active TSS	A549	lung
26	chr19:41282800-41283400	Flanking Active TSS	Hela-S3	cervix
27	chr19:41282800-41283400	Flanking Active TSS	HepG2	liver
28	chr19:41282800-41283400	Flanking Active TSS	HUVEC	blood vessel
29	chr19:41282800-41283400	Flanking Active TSS	K562	blood
30	chr19:41282800-41283400	Flanking Active TSS	NHEK	skin
31	chr19:41282800-41285000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:41282800-41285200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:41282800-41285400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:41283000-41283400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr19:41283000-41283400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:41283000-41283400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr19:41283000-41283400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:41283000-41283400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:41283000-41283400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:41283000-41283400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:41283000-41283400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:41283000-41283400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr19:41283000-41283400	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr19:41283000-41283400	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr19:41283000-41283400	Flanking Active TSS	Fetal Stomach	stomach
46	chr19:41283000-41283400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:41283000-41283400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:41283000-41283400	Flanking Active TSS	Thymus	Thymus
49	chr19:41283000-41283400	Flanking Active TSS	NHLF	lung
50	chr19:41283000-41283600	Flanking Active TSS	Fetal Muscle Leg	muscle

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