Variant report

Variant	rs59399698
Chromosome Location	chr19:36399233-36399234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:36399176-36399483	NB4	blood:	n/a	n/a
2	MAX	chr19:36399121-36399464	NB4	blood:	n/a	n/a
3	SPI1	chr19:36398866-36399479	HL-60	blood:	n/a	chr19:36399445-36399458 chr19:36399421-36399428
4	POLR2A	chr19:36398276-36399540	HL-60	blood:	n/a	n/a
5	ELF1	chr19:36399067-36399373	K562	blood:	n/a	chr19:36399197-36399210 chr19:36399198-36399209
6	ELF1	chr19:36398997-36399396	GM12878	blood:	n/a	chr19:36399197-36399210 chr19:36399198-36399209
7	SPI1	chr19:36399100-36399282	K562	blood:	n/a	n/a
8	POLR2A	chr19:36398789-36399553	HL-60	blood:	n/a	n/a
9	HMGN3	chr19:36399223-36399233	K562	blood:	n/a	n/a
10	ZBTB7A	chr19:36399030-36399380	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36399185-36399235	HNPCEpiC	eye:	n/a
2	chr19:36399185-36399235	AG09309	skin:	n/a
3	chr19:36399185-36399235	Hela-S3	cervix:	n/a
4	chr19:36399185-36399235	MCF10A-Er-Src	breast:	n/a
5	chr19:36399185-36399235	GM06990	blood:	n/a
6	chr19:36399185-36399235	HUVEC	blood vessel:	n/a
7	chr19:36399185-36399235	BE2_C	brain:	n/a
8	chr19:36399185-36399235	LNCaP	prostate:	n/a
9	chr19:36399185-36399235	MCF-7	breast:	n/a
10	chr19:36399185-36399235	NHDF-neo	bronchial:	n/a
11	chr19:36399185-36399235	NHBE	bronchial:	n/a
12	chr19:36399185-36399235	NT2-D1	testis:	n/a
13	chr19:36399185-36399235	GM12878	blood:	n/a
14	chr19:36399185-36399235	GM19239	blood:	n/a
15	chr19:36399185-36399235	IMR90	lung:	fetal
16	chr19:36399185-36399235	HMEC	breast:	n/a
17	chr19:36399185-36399235	K562	blood:	n/a
18	chr19:36399185-36399235	GM12891	blood:	n/a
19	chr19:36399185-36399235	SK-N-SH	brain:	n/a
20	chr19:36399185-36399235	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:36399185-36399235	HRPEpiC	eye:	n/a
22	chr19:36399185-36399235	AoSMC	blood vessel:	n/a
23	chr19:36399185-36399235	HCT-116	colon:	n/a
24	chr19:36399185-36399235	ovcar-3	ovarian:	n/a
25	chr19:36399185-36399235	AG04449	skin:	fetal
26	chr19:36399185-36399235	SKMC	muscle:	n/a
27	chr19:36399185-36399235	HCPEpiC	choroid plexus:	n/a
28	chr19:36399185-36399235	HIPEpiC	eye:	n/a
29	chr19:36399185-36399235	HL-60	blood:	n/a
30	chr19:36399185-36399235	ProgFib	skin:	n/a
31	chr19:36399185-36399235	SK-N-SH_RA	brain:	n/a
32	chr19:36399185-36399235	Jurkat	blood:	n/a
33	chr19:36399185-36399235	BJ	skin:	n/a
34	chr19:36399185-36399235	AG10803	skin:	n/a
35	chr19:36399185-36399235	HAEpiC	amniotic membrane:	n/a
36	chr19:36399185-36399235	SK-N-MC	brain:	n/a
37	chr19:36399185-36399235	Caco-2	colon:	n/a
38	chr19:36399185-36399235	HepG2	liver:	n/a
39	chr19:36399185-36399235	T-47D	breast:	n/a
40	chr19:36399185-36399235	NH-A	brain:	n/a
41	chr19:36399185-36399235	AG09319	gingival:	n/a
42	chr19:36399185-36399235	PANC-1	pancreas:	n/a
43	chr19:36399185-36399235	GM12892	blood:	n/a
44	chr19:36399185-36399235	NB4	blood:	n/a
45	chr19:36399185-36399235	H1-hESC	embryonic stem cell:	embryo
46	chr19:36399185-36399235	AG04450	lung:	fetal
47	chr19:36399185-36399235	HCM	heart:	n/a
48	chr19:36399185-36399235	HRCEpiC	kidney:	n/a
49	chr19:36399185-36399235	Hepatocyte	liver:	n/a
50	chr19:36399185-36399235	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:

No data

Variant related genes	Relation type
TYROBP	TF binding region
TYROBP	CpG island
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10221486	0.81[EUR][1000 genomes]
rs1057265	0.85[EUR][1000 genomes]
rs11878444	0.85[EUR][1000 genomes]
rs11879537	0.81[EUR][1000 genomes]
rs11881157	0.81[EUR][1000 genomes]
rs11882386	0.85[EUR][1000 genomes]
rs13382036	0.81[EUR][1000 genomes]
rs2242590	0.85[EUR][1000 genomes]
rs230260	0.84[EUR][1000 genomes]
rs34933126	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56744930	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922307	0.85[EUR][1000 genomes]
rs57068163	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57094555	0.85[EUR][1000 genomes]
rs57412339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516855	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57962062	0.81[EUR][1000 genomes]
rs58161969	0.85[EUR][1000 genomes]
rs58291714	0.84[EUR][1000 genomes]
rs58456578	0.81[EUR][1000 genomes]
rs58504183	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58551711	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58622306	1.00[ASN][1000 genomes]
rs58976020	0.81[EUR][1000 genomes]
rs59150589	0.81[EUR][1000 genomes]
rs59416903	0.81[EUR][1000 genomes]
rs59478831	0.95[EUR][1000 genomes]
rs59534183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60073802	0.85[EUR][1000 genomes]
rs60268250	0.84[EUR][1000 genomes]
rs60576074	0.84[EUR][1000 genomes]
rs60869994	0.84[EUR][1000 genomes]
rs60935148	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61660311	0.85[EUR][1000 genomes]
rs61672461	0.95[EUR][1000 genomes]
rs7246259	0.81[EUR][1000 genomes]
rs7246541	0.81[EUR][1000 genomes]
rs7247000	0.81[EUR][1000 genomes]
rs7252526	0.81[EUR][1000 genomes]
rs7253086	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254335	0.81[EUR][1000 genomes]
rs7256280	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256433	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257789	0.81[EUR][1000 genomes]
rs7257911	0.81[EUR][1000 genomes]
rs7258914	0.81[EUR][1000 genomes]
rs7260613	0.95[EUR][1000 genomes]
rs73590883	0.95[EUR][1000 genomes]
rs73590895	0.90[EUR][1000 genomes]
rs73599539	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599540	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599546	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73599554	0.81[EUR][1000 genomes]
rs73599561	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73599565	0.85[EUR][1000 genomes]
rs73599577	0.85[EUR][1000 genomes]
rs73599586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599600	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599602	0.85[EUR][1000 genomes]
rs73928364	0.81[EUR][1000 genomes]
rs8110868	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909135	0.90[EUR][1000 genomes]
rs909136	0.90[EUR][1000 genomes]
rs9749492	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:36395000-36400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:36395000-36400200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36395000-36402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:36395200-36399800	Weak transcription	Dnd41	blood
6	chr19:36395200-36400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:36395600-36400200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:36395600-36401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:36396200-36399400	Weak transcription	Primary T cells from cord blood	blood
10	chr19:36396400-36399800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:36396400-36399800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:36396400-36400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:36397200-36400000	Enhancers	GM12878-XiMat	blood
14	chr19:36397400-36400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:36397400-36401000	Enhancers	K562	blood
16	chr19:36397600-36401200	Weak transcription	Osteobl	bone
17	chr19:36397800-36399400	Active TSS	Duodenum Mucosa	Duodenum
18	chr19:36398000-36399400	Active TSS	Fetal Muscle Leg	muscle
19	chr19:36398000-36399400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:36398000-36399600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:36398000-36400200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr19:36398000-36400200	Active TSS	Brain Hippocampus Middle	brain
23	chr19:36398200-36399400	Active TSS	Adipose Nuclei	Adipose
24	chr19:36398200-36399400	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:36398200-36400200	Weak transcription	HSMM	muscle
26	chr19:36398400-36399400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:36398400-36399400	Active TSS	Brain Substantia Nigra	brain
28	chr19:36398400-36399800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:36398400-36401000	Enhancers	Fetal Thymus	thymus
30	chr19:36398400-36402800	Weak transcription	A549	lung
31	chr19:36398600-36399400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr19:36398600-36400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:36398600-36400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:36398600-36400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr19:36398600-36400800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:36398600-36401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr19:36398600-36401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:36398800-36399400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36398800-36399400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:36398800-36400000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr19:36398800-36400200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:36398800-36400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:36398800-36400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:36399000-36399400	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:36399000-36400000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:36399200-36399400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:36399200-36399400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:36399200-36400000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:36399200-36400000	Weak transcription	Liver	Liver

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