Variant report

Variant	rs540172451
Chromosome Location	chr1:209956910-209956911
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
2	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:
3	chr1:209946631..209949857-chr1:209956266..209959109,3	MCF-7	breast:
4	chr1:209947385..209948947-chr1:209955247..209957526,2	MCF-7	breast:
5	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
6	chr1:209955222..209958022-chr1:210545930..210547914,2	K562	blood:
7	chr1:209802370..209804993-chr1:209955747..209957464,2	K562	blood:
8	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
9	chr1:209956517..209958141-chr1:209999783..210001469,2	MCF-7	breast:
10	chr1:209953015..209954990-chr1:209956352..209958315,2	MCF-7	breast:
11	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
12	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
13	chr1:209921622..209924785-chr1:209954989..209957828,3	MCF-7	breast:
14	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117597	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000117595	Chromatin interaction
ENSG00000009790	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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1067914	chr1:209955818-209972979	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209942800-209957200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209943800-209957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:209943800-209957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:209945200-209957200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:209949200-209957000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209950200-209957400	Weak transcription	Aorta	Aorta
7	chr1:209952000-209957000	Weak transcription	HUVEC	blood vessel
8	chr1:209953800-209957400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:209954200-209957000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:209954200-209957400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:209955200-209957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:209955400-209957000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:209956000-209957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:209956000-209957000	Enhancers	Fetal Heart	heart
15	chr1:209956000-209957000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:209956000-209957200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:209956200-209957000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:209956200-209957200	Genic enhancers	Fetal Stomach	stomach
19	chr1:209956400-209957000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:209956400-209957000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:209956400-209957000	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:209956400-209957000	Enhancers	HSMMtube	muscle
23	chr1:209956400-209957200	Enhancers	Left Ventricle	heart
24	chr1:209956400-209957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:209956600-209957000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:209956600-209957000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:209956600-209957000	Enhancers	Liver	Liver
28	chr1:209956600-209957000	Enhancers	Brain Hippocampus Middle	brain
29	chr1:209956600-209957000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:209956600-209957000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:209956600-209957000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:209956600-209957000	Enhancers	Fetal Lung	lung
33	chr1:209956600-209957000	Genic enhancers	Fetal Thymus	thymus
34	chr1:209956600-209957000	Enhancers	Psoas Muscle	Psoas
35	chr1:209956600-209957000	Enhancers	Right Atrium	heart
36	chr1:209956600-209957000	Enhancers	Right Ventricle	heart
37	chr1:209956600-209957000	Genic enhancers	K562	blood
38	chr1:209956600-209957200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:209956600-209957200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:209956600-209957200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:209956600-209957200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:209956600-209957200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr1:209956600-209957200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:209956600-209957200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:209956600-209957200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:209956600-209957200	Enhancers	Brain Substantia Nigra	brain
47	chr1:209956600-209957200	Enhancers	Colonic Mucosa	Colon
48	chr1:209956600-209957200	Enhancers	Pancreas	Pancrea
49	chr1:209956600-209957200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:209956600-209957200	Enhancers	Monocytes-CD14+_RO01746	blood

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