Variant report

Variant	rs554099197
Chromosome Location	chr7:139580208-139580209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139578984..139580566-chr7:139596282..139599209,2	K562	blood:
2	chr7:139579073..139580774-chr7:139601973..139604722,2	K562	blood:
3	chr7:139578936..139582458-chr7:139673228..139676446,3	K562	blood:
4	chr7:139579614..139583273-chr7:139583440..139586485,4	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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv608474	chr7:139579177-139586807	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv889244	chr7:139579177-139607500	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139571600-139582400	Weak transcription	Colonic Mucosa	Colon
5	chr7:139571800-139584000	Weak transcription	Fetal Kidney	kidney
6	chr7:139573600-139586600	Weak transcription	Right Atrium	heart
7	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:139576000-139582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:139576400-139580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:139576400-139583600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:139576800-139580600	Weak transcription	Left Ventricle	heart
12	chr7:139576800-139583600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:139577000-139584200	Weak transcription	Spleen	Spleen
14	chr7:139577000-139593800	Weak transcription	Lung	lung
15	chr7:139577000-139612400	Weak transcription	Thymus	Thymus
16	chr7:139577200-139583800	Weak transcription	Fetal Thymus	thymus
17	chr7:139577400-139584200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:139577600-139583800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:139578000-139580400	Enhancers	Stomach Mucosa	stomach
20	chr7:139578000-139580400	Enhancers	NHEK	skin
21	chr7:139578200-139580400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:139578600-139584800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:139578800-139580400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:139579200-139581400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:139579600-139580400	Enhancers	Small Intestine	intestine
26	chr7:139579800-139580400	Enhancers	K562	blood
27	chr7:139579800-139580400	Enhancers	Osteobl	bone
28	chr7:139579800-139583800	Weak transcription	Gastric	stomach
29	chr7:139580000-139580400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:139580000-139580400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:139580200-139580600	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:139580200-139581200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:139580200-139581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:139580200-139585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:139580200-139588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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