Variant report

Variant	rs183993638
Chromosome Location	chr7:65674520-65674521
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	chr7:65673531..65675295-chr7:65684693..65686542,2	K562	blood:
2	chr7:65673035..65675351-chr7:65772228..65774640,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases
4	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65671400-65674800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:65671400-65675000	Weak transcription	Esophagus	oesophagus
3	chr7:65671400-65675800	Weak transcription	Lung	lung
4	chr7:65671400-65676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65671400-65677000	Weak transcription	Placenta	Placenta
6	chr7:65671400-65678800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:65671600-65675000	Weak transcription	Gastric	stomach
8	chr7:65671600-65685400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:65671600-65689000	Weak transcription	Pancreas	Pancrea
10	chr7:65671800-65674800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:65671800-65675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:65671800-65675600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:65671800-65675600	Weak transcription	Stomach Mucosa	stomach
14	chr7:65671800-65677600	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:65671800-65677600	Weak transcription	Spleen	Spleen
16	chr7:65671800-65682200	Weak transcription	Left Ventricle	heart
17	chr7:65672000-65677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:65672200-65677200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:65672200-65677400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:65672200-65677600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:65672200-65678000	Weak transcription	HSMM	muscle
22	chr7:65672200-65678800	Weak transcription	HUVEC	blood vessel
23	chr7:65672200-65687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
25	chr7:65672400-65675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:65672400-65675200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:65672400-65677000	Weak transcription	Fetal Brain Male	brain
28	chr7:65672400-65678800	Weak transcription	NH-A	brain
29	chr7:65672600-65676600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:65672600-65687600	Weak transcription	Brain Germinal Matrix	brain
31	chr7:65673000-65676000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:65673000-65689000	Weak transcription	HMEC	breast
33	chr7:65673200-65674600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:65673200-65676400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:65673200-65677200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:65673200-65677600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:65673400-65674600	Weak transcription	HepG2	liver
38	chr7:65673400-65674800	Weak transcription	Fetal Stomach	stomach
39	chr7:65673400-65677200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:65673400-65677200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:65673400-65677600	Weak transcription	Primary T cells from cord blood	blood
42	chr7:65673400-65677800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:65673400-65678000	Weak transcription	NHDF-Ad	bronchial
44	chr7:65673400-65678800	Weak transcription	NHEK	skin
45	chr7:65673400-65689000	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:65673600-65676400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:65673600-65676800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:65673600-65682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:65673800-65675800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:65674000-65674600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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