Variant report

Variant	rs115948330
Chromosome Location	chr3:191061481-191061482
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:
2	chr3:191059991..191062232-chr3:191093910..191095757,2	MCF-7	breast:
3	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
4	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv461049	chr3:191059322-191069984	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv592819	chr3:191059322-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv461051	chr3:191060954-191069984	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv461052	chr3:191060954-191069984	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv461053	chr3:191060954-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv592820	chr3:191060954-191069984	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv461054	chr3:191060954-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv592821	chr3:191060954-191073228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv592822	chr3:191061214-191068588	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv592823	chr3:191061214-191069984	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv461055	chr3:191061214-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv461056	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv592824	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv878105	chr3:191061214-191073228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
2	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:191055600-191062000	Enhancers	HepG2	liver
6	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
7	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:191057800-191061600	Weak transcription	K562	blood
11	chr3:191057800-191061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
13	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
14	chr3:191059200-191061600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:191059200-191061800	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:191059200-191062200	Enhancers	Osteobl	bone
19	chr3:191059200-191063400	Enhancers	Adipose Nuclei	Adipose
20	chr3:191059400-191062000	Enhancers	NHLF	lung
21	chr3:191059400-191062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:191059400-191063600	Enhancers	Fetal Heart	heart
23	chr3:191059600-191062600	Weak transcription	GM12878-XiMat	blood
24	chr3:191059600-191062800	Weak transcription	Small Intestine	intestine
25	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:191059800-191061600	Enhancers	Hela-S3	cervix
27	chr3:191059800-191062000	Enhancers	Fetal Lung	lung
28	chr3:191060000-191061600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:191060000-191062000	Enhancers	HSMM	muscle
30	chr3:191060000-191062200	Enhancers	Fetal Brain Female	brain
31	chr3:191060400-191061800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:191060400-191062000	Enhancers	NHDF-Ad	bronchial
33	chr3:191060400-191063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:191060600-191064600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:191060600-191065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
38	chr3:191060800-191062000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:191060800-191062200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
41	chr3:191061000-191061800	Weak transcription	Liver	Liver
42	chr3:191061000-191061800	Weak transcription	Left Ventricle	heart
43	chr3:191061000-191061800	Weak transcription	Ovary	ovary
44	chr3:191061000-191061800	Weak transcription	Pancreas	Pancrea
45	chr3:191061000-191061800	Weak transcription	Psoas Muscle	Psoas
46	chr3:191061000-191061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:191061000-191062000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:191061000-191062800	Weak transcription	Brain Anterior Caudate	brain
49	chr3:191061000-191064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:191061000-191064400	Weak transcription	Right Ventricle	heart

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