Variant report

Variant	rs190213646
Chromosome Location	chr5:127596852-127596853
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	chr5:127590444..127593312-chr5:127595170..127597999,2	K562	blood:
2	chr5:127587584..127589837-chr5:127596586..127599055,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588800-127613400	Weak transcription	Ovary	ovary
2	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
3	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:127589200-127612200	Weak transcription	Osteobl	bone
5	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:127591400-127598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:127591800-127598400	Weak transcription	Right Ventricle	heart
9	chr5:127592200-127606600	Weak transcription	NH-A	brain
10	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:127592600-127597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127592600-127597400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:127592600-127598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:127592600-127598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
16	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
17	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:127592800-127597400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:127592800-127624400	Weak transcription	A549	lung
21	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:127593000-127597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:127593400-127597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:127593400-127600400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:127593800-127597200	Weak transcription	Fetal Intestine Large	intestine
27	chr5:127593800-127597400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:127593800-127598400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:127593800-127599400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:127593800-127600800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:127594000-127598600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:127594000-127599400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:127594000-127599600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:127594200-127600000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:127594400-127598600	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:127594400-127599600	Weak transcription	Gastric	stomach
38	chr5:127594600-127597200	Weak transcription	Fetal Lung	lung
39	chr5:127594600-127597400	Weak transcription	Fetal Heart	heart
40	chr5:127594600-127598400	Weak transcription	Fetal Kidney	kidney
41	chr5:127594600-127601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:127594800-127598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:127594800-127613600	Weak transcription	HMEC	breast
44	chr5:127595200-127599200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:127595600-127597400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:127595600-127598400	Strong transcription	Left Ventricle	heart
47	chr5:127595600-127599000	Strong transcription	Fetal Stomach	stomach
48	chr5:127596000-127597000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:127596200-127597400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:127596200-127598800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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