Variant report

Variant	rs140662222
Chromosome Location	chr5:112256588-112256589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
2	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:
3	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
4	chr5:112255746..112257849-chr5:112312359..112314246,3	MCF-7	breast:
5	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
6	chr5:112132025..112134986-chr5:112254619..112257174,2	K562	blood:
7	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:

Variant related genes	Relation type
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3393782	chr5:112256103-112258601	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
3	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:112253000-112256600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:112254600-112256600	Weak transcription	Fetal Thymus	thymus
7	chr5:112254600-112256600	Weak transcription	Small Intestine	intestine
8	chr5:112254600-112256600	Weak transcription	Spleen	Spleen
9	chr5:112254800-112256800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:112255200-112256600	Weak transcription	Esophagus	oesophagus
11	chr5:112255400-112256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:112255400-112256600	Weak transcription	Lung	lung
13	chr5:112255400-112258400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:112255600-112258200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112255800-112256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:112255800-112256600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr5:112255800-112256800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr5:112256000-112256600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:112256000-112256600	Active TSS	Stomach Smooth Muscle	stomach
20	chr5:112256000-112256600	Flanking Active TSS	A549	lung
21	chr5:112256000-112256800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:112256000-112257000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:112256000-112257000	Flanking Active TSS	Dnd41	blood
24	chr5:112256000-112257200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:112256000-112258200	Active TSS	NHDF-Ad	bronchial
26	chr5:112256200-112256600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:112256200-112256600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:112256200-112256600	Flanking Active TSS	HUVEC	blood vessel
29	chr5:112256200-112256600	Flanking Active TSS	NH-A	brain
30	chr5:112256200-112256600	Flanking Active TSS	NHEK	skin
31	chr5:112256200-112256800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:112256200-112256800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:112256200-112256800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr5:112256200-112256800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:112256200-112256800	Flanking Active TSS	Osteobl	bone
36	chr5:112256200-112257000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:112256200-112257000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:112256200-112257000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:112256200-112257200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:112256200-112257400	Active TSS	Fetal Brain Female	brain
41	chr5:112256200-112258000	Active TSS	NHLF	lung
42	chr5:112256200-112258200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:112256200-112258200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112256200-112258200	Active TSS	GM12878-XiMat	blood
45	chr5:112256200-112258400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:112256200-112258600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:112256400-112256600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:112256400-112256600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:112256400-112256600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:112256400-112256600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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