Variant report

Variant	rs3213368
Chromosome Location	chr19:44055644-44055645
allele	C/T
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	POLR2A	chr19:44055430-44055660	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44050644..44056032-chr19:44057547..44060902,6	K562	blood:

Variant related genes	Relation type
ENSG00000269177	TF binding region
ENSG00000073050	Chromatin interaction
ENSG00000269177	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10420249	0.85[AFR][1000 genomes]
rs17655484	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2023614	0.85[ASN][1000 genomes]
rs3213248	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3213266	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3213271	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3213328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213331	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs939461	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44038800-44055800	Weak transcription	Stomach Mucosa	stomach
2	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
3	chr19:44040800-44060800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:44041800-44065200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:44042400-44058000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr19:44043200-44064600	Weak transcription	NHDF-Ad	bronchial
7	chr19:44043400-44058800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:44043400-44059000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:44043400-44059200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:44043600-44057800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr19:44043600-44059200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:44043600-44065800	Strong transcription	Adipose Nuclei	Adipose
13	chr19:44043800-44065800	Weak transcription	Fetal Heart	heart
14	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:44044600-44069000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44045200-44062800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:44046200-44056800	Weak transcription	Fetal Brain Male	brain
18	chr19:44047400-44066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:44048200-44055800	Weak transcription	Fetal Kidney	kidney
20	chr19:44048200-44062000	Weak transcription	NH-A	brain
21	chr19:44048200-44067000	Weak transcription	HUVEC	blood vessel
22	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
23	chr19:44050400-44063000	Strong transcription	Thymus	Thymus
24	chr19:44051400-44059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:44052600-44060600	Strong transcription	Osteobl	bone
26	chr19:44052800-44059000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44052800-44059000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr19:44052800-44060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:44052800-44068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:44053000-44056600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr19:44053000-44057600	Strong transcription	Liver	Liver
32	chr19:44053000-44058200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr19:44053000-44058600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:44053000-44059000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr19:44053000-44059200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr19:44053000-44059200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:44053000-44059400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:44053000-44059400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:44053000-44059400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:44053000-44059400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:44053000-44059400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:44053000-44060000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:44053000-44064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:44053000-44065600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:44053000-44066200	Strong transcription	Fetal Muscle Leg	muscle
46	chr19:44053200-44058800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:44053200-44064600	Weak transcription	K562	blood
48	chr19:44053400-44058800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:44053400-44059000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44053400-44059200	Strong transcription	Muscle Satellite Cultured Cells	--

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