Variant report

Variant	rs7248118
Chromosome Location	chr19:44011767-44011768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44007345..44009870-chr19:44010620..44012235,2	K562	blood:
2	chr19:43977172..43980889-chr19:44011519..44014130,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176531	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3213349	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv2762041	chr19:43986023-44014457	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44009000-44012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44009000-44012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:44009000-44012800	Weak transcription	Fetal Kidney	kidney
4	chr19:44009000-44023600	Weak transcription	Stomach Mucosa	stomach
5	chr19:44009200-44012000	Weak transcription	Aorta	Aorta
6	chr19:44009200-44012600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:44009200-44012600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:44009200-44013000	Weak transcription	NH-A	brain
9	chr19:44009200-44014000	Weak transcription	Ovary	ovary
10	chr19:44009200-44029200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:44009200-44029600	Weak transcription	Psoas Muscle	Psoas
12	chr19:44009400-44012000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:44009400-44012000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:44009400-44012000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:44009400-44012000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:44009400-44012000	Weak transcription	Esophagus	oesophagus
17	chr19:44009400-44012000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44009400-44012000	Weak transcription	Fetal Heart	heart
19	chr19:44009400-44012000	Weak transcription	Gastric	stomach
20	chr19:44009400-44012000	Weak transcription	Lung	lung
21	chr19:44009400-44012000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:44009400-44012000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:44009400-44012000	Weak transcription	Spleen	Spleen
24	chr19:44009400-44012000	Weak transcription	A549	lung
25	chr19:44009400-44012000	Weak transcription	HSMMtube	muscle
26	chr19:44009400-44012000	Weak transcription	NHDF-Ad	bronchial
27	chr19:44009400-44012200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:44009400-44012200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:44009400-44012200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:44009400-44012200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:44009400-44012200	Weak transcription	Adipose Nuclei	Adipose
32	chr19:44009400-44012200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:44009400-44012200	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:44009400-44012200	Weak transcription	Colonic Mucosa	Colon
35	chr19:44009400-44012200	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:44009400-44012200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:44009400-44012200	Weak transcription	Placenta	Placenta
38	chr19:44009400-44012200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:44009400-44012200	Weak transcription	NHEK	skin
40	chr19:44009400-44012200	Weak transcription	Osteobl	bone
41	chr19:44009400-44012400	Weak transcription	Brain Angular Gyrus	brain
42	chr19:44009400-44012400	Weak transcription	Fetal Thymus	thymus
43	chr19:44009400-44012600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:44009400-44012600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:44009400-44012600	Weak transcription	Brain Substantia Nigra	brain
46	chr19:44009400-44012600	Weak transcription	Fetal Lung	lung
47	chr19:44009400-44012600	Weak transcription	Left Ventricle	heart
48	chr19:44009400-44012600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:44009400-44012800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:44009400-44012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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