Variant report

Variant	rs544415229
Chromosome Location	chr3:191217534-191217535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191202788..191205385-chr3:191217397..191220401,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv878108	chr3:191175215-191223664	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878109	chr3:191178925-191227296	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1009878	chr3:191188488-191226583	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv525219	chr3:191189132-191223664	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1008969	chr3:191192569-191383856	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1010680	chr3:191215955-191258074	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191217000-191217600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:191217200-191217600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:191217200-191217600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:191217200-191217600	Active TSS	Fetal Stomach	stomach
5	chr3:191217200-191217600	Enhancers	Stomach Mucosa	stomach
6	chr3:191217200-191217800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:191217200-191217800	Active TSS	Brain Hippocampus Middle	brain
8	chr3:191217200-191217800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr3:191217200-191217800	Active TSS	Brain Substantia Nigra	brain
10	chr3:191217200-191217800	Enhancers	NHEK	skin
11	chr3:191217200-191218000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:191217200-191218000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:191217200-191218000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:191217200-191218000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:191217200-191218000	Active TSS	Fetal Kidney	kidney
16	chr3:191217200-191218000	Flanking Active TSS	K562	blood
17	chr3:191217200-191218200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:191217200-191218200	Flanking Active TSS	HMEC	breast
19	chr3:191217200-191218400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:191217400-191217600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:191217400-191217600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:191217400-191217600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr3:191217400-191217600	Active TSS	Fetal Brain Female	brain
24	chr3:191217400-191217600	Flanking Active TSS	Fetal Heart	heart
25	chr3:191217400-191217600	Active TSS	Fetal Intestine Small	intestine
26	chr3:191217400-191217600	Active TSS	Right Ventricle	heart
27	chr3:191217400-191217800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:191217400-191217800	Active TSS	Duodenum Mucosa	Duodenum
29	chr3:191217400-191217800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:191217400-191217800	Flanking Active TSS	Left Ventricle	heart
31	chr3:191217400-191218000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:191217400-191218000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:191217400-191218000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:191217400-191218000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:191217400-191218000	Active TSS	Brain Angular Gyrus	brain
36	chr3:191217400-191218000	Active TSS	Brain Cingulate Gyrus	brain
37	chr3:191217400-191218000	Active TSS	Brain Germinal Matrix	brain
38	chr3:191217400-191218000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr3:191217400-191218000	Enhancers	Fetal Lung	lung
40	chr3:191217400-191218000	Flanking Active TSS	Ovary	ovary
41	chr3:191217400-191218000	Active TSS	Right Atrium	heart
42	chr3:191217400-191218000	Active TSS	Osteobl	bone
43	chr3:191217400-191218200	Active TSS	Brain Anterior Caudate	brain

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