Variant report

Variant	rs115546878
Chromosome Location	chr1:120255893-120255894
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120229496..120231621-chr1:120254696..120256885,2	K562	blood:
2	chr1:120255588..120256130-chr10:32734472..32735272,2	NB4	blood:
3	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
4	chr1:120188760..120191459-chr1:120254916..120257641,2	K562	blood:
5	chr1:120253275..120257099-chr1:120276679..120281090,4	K562	blood:
6	chr1:120186762..120190857-chr1:120254727..120257522,5	MCF-7	breast:
7	chr1:120255317..120256884-chr1:120262274..120265030,2	K562	blood:
8	chr1:120254553..120256088-chr2:64878581..64881512,2	K562	blood:
9	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179833	Chromatin interaction
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction
ENSG00000216937	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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv3417273	chr1:120254479-120256427	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120254200-120256000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:120254200-120256000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:120254200-120256000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:120254200-120256000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:120254200-120256000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:120254200-120256000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:120254200-120256000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:120254200-120256000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:120254200-120256000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:120254200-120256000	Active TSS	Brain Angular Gyrus	brain
11	chr1:120254200-120256000	Active TSS	Brain Anterior Caudate	brain
12	chr1:120254200-120256000	Active TSS	Brain Substantia Nigra	brain
13	chr1:120254200-120256000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr1:120254200-120256200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:120254200-120256200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:120254200-120256200	Active TSS	GM12878-XiMat	blood
17	chr1:120254200-120256600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:120254200-120256600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:120254200-120256800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:120254400-120256000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:120254400-120256000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:120254400-120256000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:120254400-120256000	Active TSS	Gastric	stomach
24	chr1:120254400-120256600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:120254600-120256200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:120254600-120256200	Active TSS	Lung	lung
27	chr1:120254600-120256800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:120254800-120256000	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr1:120254800-120256000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:120254800-120257400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr1:120255000-120256000	Enhancers	Fetal Brain Male	brain
32	chr1:120255000-120256400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr1:120255200-120256200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr1:120255400-120256000	Flanking Active TSS	Placenta	Placenta
35	chr1:120255400-120256200	Active TSS	Primary B cells from cord blood	blood
36	chr1:120255400-120256200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:120255400-120256200	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr1:120255400-120256200	Flanking Active TSS	Fetal Thymus	thymus
39	chr1:120255400-120256400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:120255400-120256600	Flanking Active TSS	HUVEC	blood vessel
41	chr1:120255400-120257000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:120255400-120257000	Flanking Active TSS	Liver	Liver
43	chr1:120255400-120257200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:120255400-120257200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr1:120255600-120256000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:120255600-120256000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:120255600-120256000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:120255600-120256000	Enhancers	Left Ventricle	heart
49	chr1:120255600-120256000	Enhancers	Psoas Muscle	Psoas
50	chr1:120255600-120256000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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