Variant report

Variant	rs1697545
Chromosome Location	chr19:51628366-51628367
allele	A/C
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	MAX	chr19:51628185-51628490	K562	blood:	n/a	n/a
2	MAFF	chr19:51628124-51628477	HepG2	liver:	n/a	chr19:51628289-51628307
3	MAFK	chr19:51628123-51628475	IMR90	lung:	n/a	chr19:51628291-51628306
4	MAFK	chr19:51628191-51628482	Hela-S3	cervix:	n/a	chr19:51628291-51628306
5	MAFK	chr19:51628115-51628483	K562	blood:	n/a	chr19:51628291-51628306
6	MAFK	chr19:51628147-51628443	H1-hESC	embryonic stem cell:	n/a	chr19:51628291-51628306
7	MAFF	chr19:51628176-51628474	K562	blood:	n/a	chr19:51628289-51628307
8	MAFK	chr19:51628124-51628480	HepG2	liver:	n/a	chr19:51628291-51628306
9	MAFK	chr19:51628120-51628487	HepG2	liver:	n/a	chr19:51628291-51628306

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51623045..51625496-chr19:51626209..51628639,2	K562	blood:
2	chr19:51609991..51612209-chr19:51626240..51628975,2	MCF-7	breast:

Variant related genes	Relation type
SIGLEC9	TF binding region
ENSG00000142544	Chromatin interaction
ENSG00000268581	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10409072	1.00[CHB][hapmap]
rs11084046	1.00[CHB][hapmap]
rs16988799	1.00[CHB][hapmap]
rs3745535	1.00[LWK][hapmap]
rs4082929	1.00[CHB][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34104	chr19:51566170-51641675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv912292	chr19:51587643-51628529	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51612400-51631400	Weak transcription	Right Atrium	heart
2	chr19:51621000-51630400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:51621000-51639200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:51622400-51631400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:51622800-51629600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:51625000-51629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:51625400-51629400	Weak transcription	Lung	lung
8	chr19:51625800-51629200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr19:51626000-51628400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr19:51626200-51628600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:51626200-51628600	Enhancers	Fetal Thymus	thymus
12	chr19:51626400-51628400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:51626400-51628400	Bivalent Enhancer	Placenta	Placenta
14	chr19:51626800-51629600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:51626800-51640400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:51627000-51629600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:51627200-51628600	Enhancers	Spleen	Spleen
18	chr19:51627400-51635200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:51627400-51635400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:51627600-51628600	Enhancers	Adipose Nuclei	Adipose
21	chr19:51627600-51629200	Enhancers	Primary T cells from cord blood	blood
22	chr19:51627600-51629200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:51627600-51630200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:51627600-51631000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:51627600-51631200	Weak transcription	GM12878-XiMat	blood
26	chr19:51627800-51628400	Weak transcription	Liver	Liver
27	chr19:51627800-51628600	Enhancers	Fetal Muscle Leg	muscle
28	chr19:51627800-51628600	Weak transcription	Pancreas	Pancrea
29	chr19:51627800-51629400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:51627800-51631000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:51627800-51631200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:51627800-51635000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr19:51627800-51635400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr19:51628000-51629000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr19:51628000-51629200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr19:51628200-51628600	Enhancers	Fetal Lung	lung
37	chr19:51628200-51628600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:51628200-51628800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr19:51628200-51628800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr19:51628200-51629000	Active TSS	Left Ventricle	heart
41	chr19:51628200-51629200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:51628200-51629400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr19:51628200-51629600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:51628200-51630000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:51628200-51632400	Enhancers	Ovary	ovary

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