Variant report

Variant	rs35052289
Chromosome Location	chr19:35808966-35808967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr19:35808599-35809065	A549	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35807993..35809012-chr19:36044708..36045631,4	MCF-7	breast:
2	chr19:35807993..35809012-chr19:36044708..36045631,5	MCF-7	breast:
3	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
4	chr19:35760384..35761203-chr19:35808161..35809024,2	MCF-7	breast:
5	chr19:35607895..35610299-chr19:35808518..35810247,2	MCF-7	breast:
6	chr19:35807998..35809046-chr19:40971871..40972634,3	MCF-7	breast:
7	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
8	chr19:35740175..35741891-chr19:35807694..35809845,2	MCF-7	breast:
9	chr19:35807787..35809317-chr19:35810235..35812842,2	K562	blood:
10	chr19:35762082..35763038-chr19:35808102..35809008,5	MCF-7	breast:
11	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
12	chr19:35807878..35810423-chr19:36035383..36039227,3	MCF-7	breast:
13	chr19:35614004..35615566-chr19:35808376..35809985,2	MCF-7	breast:
14	chr19:35491237..35491794-chr19:35808497..35809009,2	MCF-7	breast:
15	chr19:35762082..35763038-chr19:35808435..35809008,4	MCF-7	breast:
16	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:

No data

Variant related genes	Relation type
CD22	TF binding region
ENSG00000160460	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000269553	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10418687	0.86[ASN][1000 genomes]
rs11879566	0.89[AFR][1000 genomes]
rs12185485	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12974994	0.86[ASN][1000 genomes]
rs28505365	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73031739	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1006379	chr19:35798572-35810821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
9	nsv978807	chr19:35806669-35810074	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35794400-35810000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35797800-35809600	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35798200-35811400	Weak transcription	Liver	Liver
5	chr19:35801000-35809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:35803200-35809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:35803200-35809600	Weak transcription	Fetal Lung	lung
8	chr19:35803400-35809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:35803400-35809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:35804200-35809800	Weak transcription	Fetal Kidney	kidney
11	chr19:35804200-35811000	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:35804600-35809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:35804600-35809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:35805000-35809200	Weak transcription	NHEK	skin
15	chr19:35805000-35809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:35805200-35809400	Weak transcription	HMEC	breast
17	chr19:35805200-35809600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:35805600-35811400	Enhancers	K562	blood
19	chr19:35806600-35809400	Enhancers	Hela-S3	cervix
20	chr19:35806800-35809400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:35806800-35810600	Enhancers	Primary B cells from cord blood	blood
22	chr19:35807000-35809600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:35807800-35812000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr19:35807800-35815800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr19:35808000-35809000	Enhancers	Brain Hippocampus Middle	brain
26	chr19:35808000-35811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:35808000-35812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:35808000-35812800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:35808200-35809000	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:35808200-35812000	Enhancers	Placenta	Placenta
31	chr19:35808400-35809600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:35808400-35809800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr19:35808400-35810200	Enhancers	Ovary	ovary
34	chr19:35808400-35812000	Enhancers	Spleen	Spleen
35	chr19:35808600-35809400	Weak transcription	Brain Substantia Nigra	brain
36	chr19:35808600-35809400	Weak transcription	NHDF-Ad	bronchial
37	chr19:35808600-35809600	Weak transcription	GM12878-XiMat	blood
38	chr19:35808600-35809800	Weak transcription	Right Ventricle	heart
39	chr19:35808600-35810600	Enhancers	HepG2	liver
40	chr19:35808600-35811600	Enhancers	Fetal Muscle Trunk	muscle
41	chr19:35808600-35812000	Enhancers	Brain Cingulate Gyrus	brain
42	chr19:35808800-35809200	Weak transcription	Brain Anterior Caudate	brain
43	chr19:35808800-35809600	Weak transcription	Fetal Thymus	thymus
44	chr19:35808800-35809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:35808800-35809800	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:35808800-35810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:35808800-35811000	Enhancers	Monocytes-CD14+_RO01746	blood

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