Variant report

Variant	rs35822171
Chromosome Location	chr1:150553195-150553196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150550660-150553289	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150552715-150553204	K562	blood:	n/a	n/a
3	POLR2A	chr1:150538877-150553278	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:150538822-150553196	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:150549148-150553226	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:150553165-150553209	K562	blood:	n/a	n/a
7	POLR2A	chr1:150550112-150553201	GM12892	blood:	n/a	n/a
8	HEY1	chr1:150552265-150553243	K562	blood:	n/a	n/a
9	POLR2A	chr1:150552692-150553248	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
2	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
3	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
4	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
5	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
6	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
7	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
8	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
9	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
10	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
11	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
12	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:

No data

Variant related genes	Relation type
MCL1	TF binding region
ENSG00000143420	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000253047	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11204661	1.00[AMR][1000 genomes]
rs11799727	1.00[AMR][1000 genomes]
rs12075189	1.00[AMR][1000 genomes]
rs12089548	1.00[AMR][1000 genomes]
rs12092817	1.00[AMR][1000 genomes]
rs12093938	1.00[AMR][1000 genomes]
rs16839661	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150551400-150553200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:150551400-150553200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:150552000-150553800	Weak transcription	Gastric	stomach
4	chr1:150552400-150553200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:150552400-150553200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:150552400-150553200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:150552400-150553200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:150552400-150553200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:150552400-150553200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:150552400-150553200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:150552400-150553200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:150552400-150553200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr1:150552400-150553200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:150552400-150553200	Flanking Active TSS	Hela-S3	cervix
15	chr1:150552400-150553200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:150552400-150553400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:150552600-150553200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:150552600-150553200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:150552600-150553200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:150552600-150553200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:150552600-150553200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:150552800-150553200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:150552800-150553200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:150552800-150553200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150552800-150553200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:150552800-150553200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:150552800-150553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:150552800-150553200	Flanking Active TSS	Liver	Liver
29	chr1:150552800-150553200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:150552800-150553200	Enhancers	Fetal Heart	heart
31	chr1:150552800-150553200	Enhancers	Placenta	Placenta
32	chr1:150552800-150553200	Enhancers	Fetal Thymus	thymus
33	chr1:150552800-150553200	Flanking Active TSS	Psoas Muscle	Psoas
34	chr1:150552800-150553200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:150552800-150553400	Enhancers	Pancreas	Pancrea
36	chr1:150552800-150553400	Enhancers	Small Intestine	intestine
37	chr1:150552800-150553800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:150552800-150554000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:150552800-150554000	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:150552800-150554200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:150553000-150553200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:150553000-150553200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:150553000-150553200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:150553000-150553200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:150553000-150553200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:150553000-150553200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:150553000-150553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:150553000-150553200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:150553000-150553200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:150553000-150553200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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