Variant report

Variant	rs17173033
Chromosome Location	chr19:36399699-36399700
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	POLR2A	chr19:36399679-36400985	HL-60	blood:	n/a	n/a
2	PML	chr19:36399693-36400717	GM12878	blood:	n/a	n/a

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

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11878547	0.83[ASN][1000 genomes]
rs11880785	0.92[EUR][1000 genomes]
rs16960862	0.83[ASN][1000 genomes]
rs1802029	0.83[ASN][1000 genomes]
rs33964243	0.83[ASN][1000 genomes]
rs4806227	0.96[EUR][1000 genomes]
rs57113091	0.96[EUR][1000 genomes]
rs57962062	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58422001	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59150589	0.83[AFR][1000 genomes]
rs59416903	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7251744	0.85[ASN][1000 genomes]
rs7251879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7252526	0.87[AFR][1000 genomes]
rs7252572	0.84[AFR][1000 genomes]
rs7252902	0.81[ASN][1000 genomes]
rs7253040	0.83[ASN][1000 genomes]
rs7253826	0.83[ASN][1000 genomes]
rs7254113	0.83[ASN][1000 genomes]
rs7254335	0.89[AFR][1000 genomes]
rs7258154	0.83[ASN][1000 genomes]
rs7258214	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7258909	0.85[ASN][1000 genomes]
rs8105153	0.83[ASN][1000 genomes]
rs8106480	0.83[ASN][1000 genomes]
rs8106495	0.83[ASN][1000 genomes]
rs8108360	0.83[ASN][1000 genomes]
rs8108459	0.83[ASN][1000 genomes]
rs8110231	0.86[ASN][1000 genomes]
rs8111740	0.83[ASN][1000 genomes]
rs8113524	0.86[ASN][1000 genomes]
rs8113704	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs879407	0.87[ASN][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:54 , 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	chr19:36396400-36399800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36396400-36399800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:36396400-36400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:36397200-36400000	Enhancers	GM12878-XiMat	blood
13	chr19:36397400-36400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr19:36397400-36401000	Enhancers	K562	blood
15	chr19:36397600-36401200	Weak transcription	Osteobl	bone
16	chr19:36398000-36400200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:36398000-36400200	Active TSS	Brain Hippocampus Middle	brain
18	chr19:36398200-36400200	Weak transcription	HSMM	muscle
19	chr19:36398400-36399800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:36398400-36401000	Enhancers	Fetal Thymus	thymus
21	chr19:36398400-36402800	Weak transcription	A549	lung
22	chr19:36398600-36400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:36398600-36400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:36398600-36400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:36398600-36400800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:36398600-36401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:36398600-36401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:36398800-36400000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr19:36398800-36400200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr19:36398800-36400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:36398800-36400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:36399000-36400000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:36399200-36400000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:36399200-36400000	Weak transcription	Liver	Liver
36	chr19:36399200-36400000	Weak transcription	Placenta	Placenta
37	chr19:36399200-36400000	Weak transcription	Spleen	Spleen
38	chr19:36399200-36400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:36399200-36400800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr19:36399200-36400800	Enhancers	Thymus	Thymus
41	chr19:36399200-36401000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:36399200-36401000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr19:36399200-36402800	Weak transcription	Pancreas	Pancrea
44	chr19:36399400-36399800	Enhancers	Primary hematopoietic stem cells	blood
45	chr19:36399400-36399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:36399400-36400000	Enhancers	Primary T cells from cord blood	blood
47	chr19:36399400-36400000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:36399400-36400200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:36399400-36400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:36399400-36400800	Enhancers	Primary T helper cells fromperipheralblood	blood

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