Variant report

Variant	rs111998854
Chromosome Location	chr7:137600823-137600824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137600116..137602105-chr7:137606169..137608041,3	K562	blood:
2	chr7:137594343..137597893-chr7:137600589..137603730,5	K562	blood:
3	chr7:137600305..137602461-chr7:137615591..137618449,2	MCF-7	breast:
4	chr7:137598519..137601964-chr7:137608334..137611661,3	K562	blood:
5	chr7:137600116..137601742-chr7:137606169..137608041,2	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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137584200-137601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
3	chr7:137584400-137601600	Strong transcription	Fetal Intestine Large	intestine
4	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
5	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
6	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:137585200-137601000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:137585200-137606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:137588800-137601400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:137588800-137601600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:137588800-137603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137588800-137603400	Strong transcription	Fetal Intestine Small	intestine
13	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
15	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:137588800-137620200	Weak transcription	Dnd41	blood
17	chr7:137589000-137601000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:137589000-137601600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:137589000-137601600	Strong transcription	Liver	Liver
20	chr7:137589000-137602800	Strong transcription	HepG2	liver
21	chr7:137589000-137606200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:137589400-137603600	Strong transcription	NHLF	lung
23	chr7:137589400-137603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:137589600-137601400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:137589600-137601600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr7:137589800-137601000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:137589800-137601000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:137589800-137601800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:137590000-137603000	Strong transcription	Fetal Stomach	stomach
31	chr7:137590000-137603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:137590200-137601000	Strong transcription	Fetal Lung	lung
33	chr7:137590200-137601000	Strong transcription	HSMM	muscle
34	chr7:137590400-137601000	Strong transcription	NH-A	brain
35	chr7:137590400-137603400	Weak transcription	Fetal Heart	heart
36	chr7:137590400-137603600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:137592000-137603600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:137592200-137601200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:137592400-137606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
43	chr7:137592600-137601200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:137592800-137601000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:137594000-137601000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:137594200-137601200	Strong transcription	Osteobl	bone
47	chr7:137594200-137602000	Strong transcription	K562	blood
48	chr7:137594200-137606000	Weak transcription	Gastric	stomach
49	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:137594400-137601000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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