Variant report

Variant	rs572997094
Chromosome Location	chr5:95143918-95143919
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	chr5:95097577..95099971-chr5:95142843..95145150,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
4	chr5:95124600-95144000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
8	chr5:95130000-95145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:95130000-95145000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:95130000-95157400	Weak transcription	Ovary	ovary
11	chr5:95130400-95146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:95132800-95144200	Weak transcription	NHLF	lung
13	chr5:95133400-95144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:95133600-95144200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:95133600-95147800	Weak transcription	K562	blood
16	chr5:95139200-95144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:95139600-95144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:95139600-95144000	Weak transcription	NHDF-Ad	bronchial
19	chr5:95139600-95144000	Weak transcription	Osteobl	bone
20	chr5:95139600-95144600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:95139600-95145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
23	chr5:95141000-95144800	Weak transcription	Liver	Liver
24	chr5:95141200-95144000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:95141200-95144200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:95141200-95144600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:95141200-95145000	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:95141400-95145400	Weak transcription	HepG2	liver
29	chr5:95142200-95144200	Enhancers	Fetal Heart	heart
30	chr5:95142600-95144000	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:95142800-95144000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:95142800-95144200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:95142800-95148000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:95143000-95144000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:95143000-95144200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr5:95143000-95148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:95143200-95144000	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:95143200-95144000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr5:95143200-95144000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr5:95143200-95144000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:95143200-95144000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:95143200-95144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:95143200-95144800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:95143200-95145600	Enhancers	Fetal Muscle Leg	muscle
45	chr5:95143200-95147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:95143200-95148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
48	chr5:95143400-95144000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:95143400-95144200	Enhancers	Left Ventricle	heart
50	chr5:95143400-95144200	Enhancers	Skeletal Muscle Male	skeletal muscle

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