Variant report

Variant	rs1998775
Chromosome Location	chr14:104096944-104096945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:104040559..104042718-chr14:104094686..104097466,2	K562	blood:
2	chr14:104092649..104097026-chr14:104179930..104185119,7	MCF-7	breast:
3	chr14:104047041..104049916-chr14:104095707..104097301,2	MCF-7	breast:
4	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
5	chr14:104095098..104097162-chr14:104179460..104182190,3	K562	blood:
6	chr14:104095841..104097584-chr14:104162172..104164814,2	MCF-7	breast:
7	chr14:104093419..104097122-chr14:104180603..104183015,4	K562	blood:
8	chr14:104091773..104098220-chr14:104179036..104183968,10	MCF-7	breast:
9	chr14:104094844..104097550-chr17:58154950..58156929,2	MCF-7	breast:
10	chr14:104096516..104099228-chr14:104099460..104101440,3	K562	blood:
11	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
12	chr14:104093231..104097862-chr14:104156769..104161796,10	MCF-7	breast:
13	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:
14	chr14:104095744..104098387-chr14:104161337..104163963,2	K562	blood:
15	chr14:104094760..104097289-chr14:104157296..104159578,3	K562	blood:
16	chr14:104092924..104097008-chr14:104171636..104177946,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267416	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000264904	Chromatin interaction
ENSG00000269940	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000269910	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000269958	Chromatin interaction
ENSG00000224997	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10149773	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1103184	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11160757	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629327	0.90[AMR][1000 genomes]
rs12891411	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403198	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2403199	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3742359	1.00[ASN][1000 genomes]
rs4243740	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4526964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906353	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906357	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861532	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861540	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs861542	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs861543	0.86[AMR][1000 genomes]
rs861546	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861549	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861550	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	esv3490243	chr14:104083248-104099394	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
9	esv3490244	chr14:104083248-104099394	Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
10	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104094400-104097200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104094400-104097200	Active TSS	Psoas Muscle	Psoas
3	chr14:104094400-104097400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:104094400-104097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:104094600-104097000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:104094600-104097200	Active TSS	Ovary	ovary
7	chr14:104094600-104097200	Active TSS	Right Atrium	heart
8	chr14:104094600-104097400	Active TSS	Aorta	Aorta
9	chr14:104094600-104097400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:104094800-104097000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr14:104094800-104097000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:104094800-104097200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:104094800-104097400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:104095000-104097000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:104095000-104097000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:104095000-104097000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:104095000-104097000	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:104095000-104097000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr14:104095000-104097200	Active TSS	Right Ventricle	heart
20	chr14:104095000-104097200	Active TSS	HSMMtube	muscle
21	chr14:104095000-104097400	Active TSS	Thymus	Thymus
22	chr14:104095200-104097000	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:104095200-104097000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:104095200-104097000	Active TSS	HSMM	muscle
25	chr14:104095200-104097000	Active TSS	NHDF-Ad	bronchial
26	chr14:104095200-104097000	Active TSS	NHEK	skin
27	chr14:104095200-104097200	Active TSS	NHLF	lung
28	chr14:104095400-104097200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:104095600-104097000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:104096000-104097200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:104096000-104097200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr14:104096000-104097400	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr14:104096200-104097000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:104096200-104097000	Active TSS	Brain Germinal Matrix	brain
35	chr14:104096200-104097200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:104096200-104097200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:104096200-104097200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr14:104096200-104097200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:104096200-104097200	Flanking Active TSS	Liver	Liver
40	chr14:104096200-104097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:104096400-104097000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr14:104096400-104097000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr14:104096400-104097000	Active TSS	Fetal Brain Male	brain
44	chr14:104096400-104097000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:104096400-104097200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr14:104096400-104097200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr14:104096400-104097200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr14:104096400-104097200	Flanking Active TSS	Osteobl	bone
49	chr14:104096400-104097400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr14:104096400-104097400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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