Variant report

Variant	rs555530636
Chromosome Location	chr7:38227935-38227936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38227891..38230649-chr7:38232228..38236462,5	K562	blood:
2	chr7:38219568..38221988-chr7:38224913..38228070,4	K562	blood:
3	chr7:38224703..38226374-chr7:38226837..38229544,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv1030349	chr7:38227528-38372719	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv538818	chr7:38227528-38372719	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
6	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
7	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
8	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:38220400-38228000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:38220400-38228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:38220400-38230000	Weak transcription	Fetal Lung	lung
12	chr7:38220400-38232400	Weak transcription	Fetal Brain Male	brain
13	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:38220800-38228000	Weak transcription	Fetal Brain Female	brain
15	chr7:38220800-38231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:38221000-38236400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:38221000-38246800	Weak transcription	Primary T cells from cord blood	blood
18	chr7:38221400-38228000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:38224000-38231400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:38224200-38235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:38224200-38235800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:38224200-38235800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:38224800-38228000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:38224800-38229800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:38224800-38230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:38225000-38229200	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:38225000-38229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:38225000-38229600	Enhancers	Primary B cells from cord blood	blood
30	chr7:38225000-38247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:38225200-38228000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:38225400-38229800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:38225400-38230200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:38225600-38228400	Enhancers	Fetal Heart	heart
35	chr7:38225600-38235800	Weak transcription	Ovary	ovary
36	chr7:38225800-38229800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:38225800-38235800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:38226000-38229800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:38226200-38228000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:38226200-38229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:38226400-38228000	Enhancers	Fetal Muscle Leg	muscle
42	chr7:38226600-38228000	Enhancers	Left Ventricle	heart
43	chr7:38226600-38228600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:38226600-38229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:38226800-38228800	Weak transcription	Brain Angular Gyrus	brain
46	chr7:38227000-38229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:38227000-38229000	Weak transcription	Psoas Muscle	Psoas
48	chr7:38227000-38229000	Weak transcription	NH-A	brain
49	chr7:38227000-38229000	Weak transcription	NHDF-Ad	bronchial
50	chr7:38227000-38229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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