Variant report

Variant	rs73048928
Chromosome Location	chr19:41323793-41323794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41323756..41325875-chr19:41632979..41635488,2	MCF-7	breast:
2	chr19:41305847..41307435-chr19:41322147..41325035,2	K562	blood:

Variant related genes	Relation type
ENSG00000268797	Chromatin interaction
ENSG00000269858	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11547373	0.88[ASN][1000 genomes]
rs12052092	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35061187	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35405967	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3733829	0.90[ASN][1000 genomes]
rs3736329	0.93[ASN][1000 genomes]
rs3776611	0.87[ASN][1000 genomes]
rs41530251	0.82[ASN][1000 genomes]
rs4802090	0.94[ASN][1000 genomes]
rs4802091	0.94[ASN][1000 genomes]
rs4803369	0.94[ASN][1000 genomes]
rs71358934	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41324400	Weak transcription	HepG2	liver
2	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
3	chr19:41316200-41324400	Weak transcription	Gastric	stomach
4	chr19:41316400-41325400	Weak transcription	Dnd41	blood
5	chr19:41317600-41324000	Weak transcription	Hela-S3	cervix
6	chr19:41317600-41324400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:41317800-41324200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:41317800-41324400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:41317800-41324400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr19:41318000-41324400	Weak transcription	Pancreas	Pancrea
11	chr19:41318000-41324400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:41318000-41324400	Weak transcription	Right Atrium	heart
13	chr19:41318200-41323800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:41318200-41324400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:41318400-41323800	Weak transcription	Primary B cells from cord blood	blood
16	chr19:41318400-41323800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:41318400-41323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:41318600-41323800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr19:41318800-41323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:41318800-41324200	Weak transcription	Fetal Intestine Large	intestine
21	chr19:41318800-41324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:41319000-41323800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:41319000-41324400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:41319200-41323800	Weak transcription	Fetal Intestine Small	intestine
25	chr19:41319200-41324000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:41319200-41324000	Weak transcription	Lung	lung
27	chr19:41319200-41324200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:41319200-41324200	Weak transcription	Adipose Nuclei	Adipose
29	chr19:41319200-41324200	Weak transcription	Brain Anterior Caudate	brain
30	chr19:41319200-41324400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:41319200-41324400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:41319200-41324400	Weak transcription	NHLF	lung
33	chr19:41319400-41324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:41319400-41324200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:41319400-41324200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:41319400-41324400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:41319400-41324400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:41319400-41324400	Weak transcription	Colonic Mucosa	Colon
39	chr19:41319400-41324400	Weak transcription	Spleen	Spleen
40	chr19:41319800-41323800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:41319800-41323800	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:41319800-41324000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:41319800-41324200	Weak transcription	Left Ventricle	heart
44	chr19:41319800-41324400	Weak transcription	Fetal Lung	lung
45	chr19:41319800-41324400	Weak transcription	Ovary	ovary
46	chr19:41319800-41324400	Weak transcription	Right Ventricle	heart
47	chr19:41319800-41324400	Weak transcription	HMEC	breast
48	chr19:41320000-41324000	Weak transcription	Brain Angular Gyrus	brain
49	chr19:41320000-41324000	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:41320000-41324000	Weak transcription	Brain Substantia Nigra	brain

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