Variant report

Variant	rs73041987
Chromosome Location	chr19:35628261-35628262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:35627822-35628503	HepG2	liver:	n/a	n/a
2	FOXA2	chr19:35628192-35628669	A549	lung:	n/a	n/a
3	FOXA1	chr19:35627777-35628570	HepG2	liver:	n/a	n/a
4	BHLHE40	chr19:35628201-35628385	GM12878	blood:	n/a	n/a
5	MAX	chr19:35627919-35628456	HepG2	liver:	n/a	n/a
6	EP300	chr19:35628179-35628402	GM12878	blood:	n/a	n/a
7	MAX	chr19:35628249-35628469	GM12878	blood:	n/a	n/a
8	EP300	chr19:35628259-35628374	GM12878	blood:	n/a	n/a
9	RCOR1	chr19:35628177-35628409	HepG2	liver:	n/a	n/a
10	EP300	chr19:35628228-35628511	HepG2	liver:	n/a	n/a
11	TEAD4	chr19:35627950-35628427	HepG2	liver:	n/a	chr19:35628260-35628269
12	NFIC	chr19:35627760-35628546	HepG2	liver:	n/a	n/a
13	MAX	chr19:35628132-35628482	K562	blood:	n/a	n/a
14	FOXA1	chr19:35627783-35628630	HepG2	liver:	n/a	n/a
15	EP300	chr19:35628167-35628433	GM12878	blood:	n/a	n/a
16	FOXA1	chr19:35627716-35628654	HepG2	liver:	n/a	n/a
17	MYBL2	chr19:35627747-35628637	HepG2	liver:	n/a	n/a
18	FOXA2	chr19:35627798-35628529	HepG2	liver:	n/a	n/a
19	MYBL2	chr19:35627796-35628484	HepG2	liver:	n/a	n/a
20	JUND	chr19:35627834-35628440	HepG2	liver:	n/a	n/a
21	RUNX3	chr19:35628093-35628383	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:35628128-35628423	K562	blood:	n/a	n/a
23	HEY1	chr19:35627732-35628390	HepG2	liver:	n/a	n/a
24	HDAC2	chr19:35627864-35628358	HepG2	liver:	n/a	chr19:35628324-35628333
25	MAX	chr19:35627792-35628568	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:35627835-35628385	HepG2	liver:	n/a	n/a
27	ARID3A	chr19:35627951-35628300	HepG2	liver:	n/a	n/a
28	PAX5	chr19:35628221-35628428	GM12878	blood:	n/a	n/a
29	FOXA2	chr19:35628149-35628573	A549	lung:	n/a	n/a
30	POLR2A	chr19:35628255-35628376	K562	blood:	n/a	n/a
31	NRF1	chr19:35628217-35628324	GM12878	blood:	n/a	n/a
32	SP1	chr19:35627688-35628523	HepG2	liver:	n/a	n/a
33	FOXA1	chr19:35627705-35628599	HepG2	liver:	n/a	n/a
34	MXI1	chr19:35627913-35628522	HepG2	liver:	n/a	n/a
35	MBD4	chr19:35627895-35628290	HepG2	liver:	n/a	n/a
36	RUNX3	chr19:35628116-35628384	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35627197..35629853-chr19:35739578..35741955,2	K562	blood:
2	chr19:35625494..35628326-chr19:35738306..35742693,4	MCF-7	breast:
3	chr19:35583635..35586288-chr19:35626706..35628411,2	MCF-7	breast:

No data

Variant related genes	Relation type
FXYD1	TF binding region
ENSG00000221857	TF binding region
LGI4	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73041927	1.00[AFR][1000 genomes]
rs73044006	1.00[AFR][1000 genomes]
rs73044080	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
3	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	nsv911617	chr19:35587791-35642297	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35624800-35629000	Enhancers	Fetal Heart	heart
2	chr19:35625200-35630000	Enhancers	NHDF-Ad	bronchial
3	chr19:35625600-35629000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:35626200-35628400	Enhancers	A549	lung
5	chr19:35626200-35629000	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:35626200-35629400	Enhancers	Fetal Intestine Small	intestine
7	chr19:35626200-35629800	Enhancers	Fetal Intestine Large	intestine
8	chr19:35626200-35629800	Enhancers	Placenta	Placenta
9	chr19:35626200-35633200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:35626400-35629200	Enhancers	Fetal Muscle Leg	muscle
11	chr19:35626400-35629800	Weak transcription	Psoas Muscle	Psoas
12	chr19:35626400-35630000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:35626600-35628400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:35626600-35628400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:35626600-35629200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:35626600-35629400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:35626600-35629600	Weak transcription	Brain Germinal Matrix	brain
18	chr19:35626600-35633800	Enhancers	Spleen	Spleen
19	chr19:35626800-35628400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:35626800-35628400	Enhancers	HMEC	breast
21	chr19:35626800-35628800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:35626800-35629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:35626800-35629200	Weak transcription	Fetal Thymus	thymus
24	chr19:35626800-35629200	Weak transcription	Left Ventricle	heart
25	chr19:35626800-35629400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:35626800-35629400	Weak transcription	K562	blood
27	chr19:35626800-35629600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr19:35626800-35629800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:35626800-35629800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr19:35626800-35630400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:35626800-35630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:35626800-35631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:35626800-35631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:35626800-35631600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:35626800-35631800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:35626800-35632400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:35627000-35628800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:35627000-35629200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:35627000-35629400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:35627000-35629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr19:35627000-35629800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:35627000-35629800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:35627000-35629800	Weak transcription	Fetal Kidney	kidney
44	chr19:35627000-35631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:35627000-35631400	Enhancers	Pancreas	Pancrea
46	chr19:35627000-35631600	Weak transcription	Hela-S3	cervix
47	chr19:35627200-35629200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:35627200-35629400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:35627200-35630000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:35627200-35630200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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