Variant report

Variant	rs1676220
Chromosome Location	chr19:42831083-42831084
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42804664..42808164-chr19:42828676..42831528,3	MCF-7	breast:
2	chr19:42720188..42722079-chr19:42829743..42831592,2	K562	blood:
3	chr19:42758106..42760087-chr19:42829469..42831268,2	MCF-7	breast:
4	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
5	chr19:42589152..42591857-chr19:42830713..42833464,2	K562	blood:
6	chr19:42745106..42746807-chr19:42829655..42831181,2	K562	blood:
7	chr19:42806642..42809220-chr19:42829976..42831705,2	K562	blood:
8	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
9	chr19:42745106..42750336-chr19:42827948..42831181,5	K562	blood:
10	chr19:42815915..42818218-chr19:42827601..42831204,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105723	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000167619	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000079432	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10410185	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10410198	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10410698	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10412833	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10426306	0.81[ASN][1000 genomes]
rs10426310	0.81[ASN][1000 genomes]
rs11882654	0.81[ASN][1000 genomes]
rs1206009	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206029	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206031	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206033	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206035	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206040	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206042	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206043	0.93[EUR][1000 genomes]
rs1206044	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1209280	0.89[EUR][1000 genomes]
rs1211265	0.89[EUR][1000 genomes]
rs13346991	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613100	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1654623	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676211	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1676213	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676214	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676215	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676217	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676221	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1685565	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2537697	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2615614	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28537976	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28621009	0.95[EUR][1000 genomes]
rs34922891	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35557987	0.95[EUR][1000 genomes]
rs57938324	0.81[ASN][1000 genomes]
rs61995685	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7255956	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258795	0.81[ASN][1000 genomes]
rs7260287	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552881	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73552895	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs741070	0.81[ASN][1000 genomes]
rs851292	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs851293	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs851294	0.86[EUR][1000 genomes]
rs851296	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs851615	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs862228	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865436	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9636121	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42829400-42831200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:42829400-42831200	Active TSS	NHLF	lung
3	chr19:42829400-42831400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:42829600-42831200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:42830000-42831200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr19:42830000-42831200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:42830200-42831200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:42830200-42831200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:42830200-42831400	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr19:42830200-42831600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:42830200-42831600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr19:42830200-42831600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr19:42830200-42831800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:42830200-42832000	Flanking Active TSS	Dnd41	blood
15	chr19:42830400-42831200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:42830400-42831200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:42830400-42831200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:42830400-42831400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:42830400-42831600	Flanking Active TSS	Fetal Brain Male	brain
20	chr19:42830400-42831600	Flanking Active TSS	Fetal Brain Female	brain
21	chr19:42830400-42831600	Flanking Active TSS	Fetal Stomach	stomach
22	chr19:42830600-42831200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:42830600-42831200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:42830600-42831200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:42830600-42831200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:42830600-42831200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:42830600-42831200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr19:42830600-42831600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:42830600-42831600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:42830600-42831600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:42830600-42831800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:42830600-42832000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:42830600-42840200	Weak transcription	Aorta	Aorta
34	chr19:42830800-42831200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr19:42830800-42831200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:42830800-42831200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:42830800-42831200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:42830800-42831200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:42830800-42831200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:42830800-42831200	Enhancers	Esophagus	oesophagus
41	chr19:42830800-42831200	Enhancers	Fetal Thymus	thymus
42	chr19:42830800-42831200	Enhancers	HUVEC	blood vessel
43	chr19:42830800-42831400	Enhancers	Primary hematopoietic stem cells	blood
44	chr19:42830800-42831400	Enhancers	Fetal Heart	heart
45	chr19:42830800-42831400	Enhancers	Fetal Muscle Leg	muscle
46	chr19:42830800-42831400	Enhancers	Hela-S3	cervix
47	chr19:42830800-42831400	Enhancers	NHEK	skin
48	chr19:42830800-42831600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:42830800-42831600	Enhancers	Primary T cells from cord blood	blood
50	chr19:42830800-42831600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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