Variant report

Variant	rs577411688
Chromosome Location	chr5:112257035-112257036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
5	chr5:112255746..112257849-chr5:112312359..112314246,3	MCF-7	breast:
6	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
7	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
8	chr16:81069322..81070029-chr5:112256640..112257405,2	Hela-S3	cervix:
9	chr5:111496112..111498947-chr5:112256676..112259616,2	K562	blood:
10	chr5:112132025..112134986-chr5:112254619..112257174,2	K562	blood:
11	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction
ENSG00000238363	Chromatin interaction
ENSG00000212643	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000224032	Chromatin interaction
ENSG00000260213	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	chr5:112255400-112258400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:112255600-112258200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112256000-112257200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:112256000-112258200	Active TSS	NHDF-Ad	bronchial
5	chr5:112256200-112257200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr5:112256200-112257400	Active TSS	Fetal Brain Female	brain
7	chr5:112256200-112258000	Active TSS	NHLF	lung
8	chr5:112256200-112258200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:112256200-112258200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112256200-112258200	Active TSS	GM12878-XiMat	blood
11	chr5:112256200-112258400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:112256200-112258600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:112256400-112257200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:112256400-112257200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:112256400-112257200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr5:112256400-112257200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:112256400-112257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:112256400-112257400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:112256400-112257400	Active TSS	Brain Germinal Matrix	brain
20	chr5:112256400-112257800	Active TSS	Right Atrium	heart
21	chr5:112256400-112258000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:112256400-112258000	Active TSS	Colonic Mucosa	Colon
23	chr5:112256400-112258200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr5:112256400-112258200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:112256400-112258200	Active TSS	Placenta	Placenta
26	chr5:112256400-112258200	Active TSS	Gastric	stomach
27	chr5:112256400-112258200	Active TSS	Psoas Muscle	Psoas
28	chr5:112256400-112258200	Active TSS	HSMM	muscle
29	chr5:112256400-112258400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:112256400-112258400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:112256400-112258400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:112256400-112258400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:112256400-112258400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:112256400-112258400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr5:112256400-112258400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:112256400-112258400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:112256400-112258400	Active TSS	Aorta	Aorta
38	chr5:112256400-112258400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr5:112256400-112258400	Active TSS	Left Ventricle	heart
40	chr5:112256400-112258400	Active TSS	Ovary	ovary
41	chr5:112256400-112258400	Active TSS	Pancreas	Pancrea
42	chr5:112256400-112258400	Active TSS	Right Ventricle	heart
43	chr5:112256400-112258600	Active TSS	Fetal Muscle Trunk	muscle
44	chr5:112256600-112257200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr5:112256600-112257200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:112256600-112257800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:112256600-112258000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:112256600-112258000	Active TSS	Small Intestine	intestine
49	chr5:112256600-112258200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:112256600-112258200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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