Variant report

Variant	rs60807487
Chromosome Location	chr19:41105860-41105861
allele	A/G
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	CTCF	chr19:41102201-41106331	A549	lung:	n/a	chr19:41104670-41104688 chr19:41104671-41104687 chr19:41102391-41102404 chr19:41104665-41104686
2	SIX5	chr19:41102535-41105874	A549	lung:	n/a	n/a
3	POLR2A	chr19:41104936-41105888	SK-N-MC	brain:	n/a	n/a
4	JUN	chr19:41104029-41106150	K562	blood:	n/a	n/a
5	CTCF	chr19:41105740-41105890	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40967363..40973578-chr19:41101518..41109514,8	K562	blood:
2	chr19:40970256..40972246-chr19:41104654..41107046,2	MCF-7	breast:
3	chr19:40853841..40855507-chr19:41105833..41108523,2	K562	blood:
4	chr19:41081508..41084656-chr19:41104716..41107591,3	K562	blood:
5	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:
6	chr19:41031800..41040224-chr19:41101608..41111828,17	K562	blood:
7	chr19:40918980..40921925-chr19:41105412..41107688,2	K562	blood:
8	chr19:41104685..41106959-chr19:41114610..41116415,2	MCF-7	breast:

Variant related genes	Relation type
LTBP4	TF binding region
ENSG00000090006	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000105227	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1864077	0.88[AFR][1000 genomes]
rs28636772	1.00[EUR][1000 genomes]
rs34545902	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv911725	chr19:41090190-41114065	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41102200-41106400	Bivalent Enhancer	Placenta	Placenta
2	chr19:41102400-41108600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr19:41102400-41109200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:41102600-41108200	Bivalent Enhancer	Primary B cells from cord blood	blood
5	chr19:41102600-41108200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:41102800-41106400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:41103000-41106600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:41103000-41107000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:41103000-41107600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr19:41103200-41106000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:41103200-41107800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr19:41103400-41106200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr19:41103400-41106400	Weak transcription	Aorta	Aorta
14	chr19:41103400-41106600	Weak transcription	Gastric	stomach
15	chr19:41103400-41106600	Weak transcription	Pancreas	Pancrea
16	chr19:41103400-41107200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr19:41103400-41107200	Bivalent Enhancer	Fetal Thymus	thymus
18	chr19:41103800-41107800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr19:41103800-41108400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:41104000-41106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:41104000-41106400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr19:41104200-41106000	Flanking Active TSS	Hela-S3	cervix
23	chr19:41104200-41107400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:41104400-41106400	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr19:41104400-41107400	Enhancers	Spleen	Spleen
26	chr19:41104600-41106000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr19:41104600-41106000	Enhancers	Right Ventricle	heart
28	chr19:41104600-41106400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr19:41104600-41106400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr19:41104600-41106600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:41104600-41107000	Bivalent Enhancer	HUVEC	blood vessel
32	chr19:41104800-41106800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr19:41104800-41107000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr19:41104800-41107000	Bivalent Enhancer	GM12878-XiMat	blood
35	chr19:41105000-41106000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:41105000-41106400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:41105000-41106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:41105000-41106800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr19:41105000-41106800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:41105000-41107800	Bivalent Enhancer	Fetal Brain Male	brain
41	chr19:41105000-41108000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:41105200-41106000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:41105200-41106400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:41105200-41106400	Bivalent Enhancer	NHEK	skin
45	chr19:41105200-41106600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:41105200-41106600	Enhancers	Brain Angular Gyrus	brain
47	chr19:41105200-41106600	Bivalent Enhancer	Fetal Lung	lung
48	chr19:41105200-41106600	Enhancers	Ovary	ovary
49	chr19:41105200-41106600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr19:41105200-41107000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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