Variant report

Variant	rs533487100
Chromosome Location	chr7:111892294-111892295
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	chr7:111845920..111848502-chr7:111890491..111892713,3	MCF-7	breast:
2	chr7:111891287..111893873-chr7:111893938..111895476,2	K562	blood:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction

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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
5	esv1802305	chr7:111891204-111896878	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
5	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
6	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:111883400-111897000	Weak transcription	HepG2	liver
9	chr7:111889400-111892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:111890600-111892600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr7:111890600-111893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:111890600-111894200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:111890800-111896000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:111890800-111896200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:111891000-111892800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:111891000-111892800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr7:111891000-111895400	Weak transcription	Small Intestine	intestine
19	chr7:111891000-111896000	Enhancers	Brain Substantia Nigra	brain
20	chr7:111891200-111892400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr7:111891200-111893200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr7:111891200-111893200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:111891200-111894600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:111891200-111894600	Enhancers	Brain Hippocampus Middle	brain
25	chr7:111891200-111894800	Enhancers	Brain Anterior Caudate	brain
26	chr7:111891200-111895000	Enhancers	Brain Angular Gyrus	brain
27	chr7:111891200-111896000	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:111891400-111892600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr7:111891400-111895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:111891400-111896000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:111891600-111893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:111891600-111894000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:111891800-111893200	Enhancers	Primary T cells from cord blood	blood
34	chr7:111892000-111892400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:111892000-111892600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr7:111892000-111892800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:111892200-111892600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:111892200-111892600	Enhancers	Aorta	Aorta
39	chr7:111892200-111893600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:111892200-111894200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:111892200-111895400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:111892200-111896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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