Variant report

Variant	rs587624318
Chromosome Location	chr1:150947894-150947895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
3	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
4	MAZ	chr1:150946550-150947933	K562	blood:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
5	POLR2A	chr1:150947840-150947941	HepG2	liver:	n/a	n/a
6	SIN3A	chr1:150947813-150947954	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:150947691-150948068	K562	blood:	n/a	n/a
8	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
9	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
10	BACH1	chr1:150947821-150947929	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
12	TBP	chr1:150947819-150947950	H1-hESC	embryonic stem cell:	n/a	n/a
13	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
14	MAX	chr1:150947644-150948038	K562	blood:	n/a	n/a
15	HEY1	chr1:150947655-150947957	K562	blood:	n/a	chr1:150947714-150947729
16	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
17	ZBTB7A	chr1:150946399-150947955	K562	blood:	n/a	n/a
18	HMGN3	chr1:150946052-150947918	K562	blood:	n/a	n/a
19	MXI1	chr1:150947797-150947953	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:150946682-150947936	K562	blood:	n/a	n/a
21	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a
22	POLR2A	chr1:150946981-150947966	H1-neurons	neurons:	n/a	n/a
23	UBTF	chr1:150946058-150948056	K562	blood:	n/a	n/a
24	POLR2A	chr1:150946134-150947999	H1-neurons	neurons:	n/a	n/a
25	ZBTB7A	chr1:150947199-150948000	K562	blood:	n/a	n/a
26	MXI1	chr1:150942976-150948211	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr1:150946906-150948020	PANC-1	pancreas:	n/a	n/a
28	SMARCB1	chr1:150945746-150947939	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
4	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
5	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
6	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
7	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
8	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
9	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
10	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
11	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
12	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
13	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
14	chr1:150946897..150947894-chr14:54863216..54863946,2	Hela-S3	cervix:
15	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
16	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
17	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
18	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
19	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA9-1	chr1:150947789-150948010	ENSG00000231073.1

No data

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000143379	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000100526	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143458	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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
5	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:150946000-150948000	Active TSS	Aorta	Aorta
8	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:150946000-150948000	Active TSS	Ovary	ovary
10	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:150946000-150948200	Active TSS	HSMM	muscle
13	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:150946200-150948000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:150946200-150948000	Active TSS	Fetal Lung	lung
16	chr1:150946200-150948000	Active TSS	Small Intestine	intestine
17	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
21	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:150946400-150948000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:150946400-150948000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:150946400-150948000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:150946400-150948000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:150946400-150948000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:150946400-150948000	Active TSS	Brain Anterior Caudate	brain
28	chr1:150946400-150948000	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:150946400-150948200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:150946400-150948200	Active TSS	Brain Germinal Matrix	brain
31	chr1:150946400-150948200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:150946400-150948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:150946400-150948200	Active TSS	Brain Substantia Nigra	brain
34	chr1:150946400-150948600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:150946600-150948000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:150946600-150948200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:150946600-150948600	Active TSS	Fetal Brain Female	brain
38	chr1:150946800-150948000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:150946800-150948800	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:150947400-150948000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr1:150947400-150948000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:150947400-150948800	Enhancers	Fetal Brain Male	brain
43	chr1:150947600-150948000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:150947600-150948000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:150947600-150948000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:150947600-150948000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:150947600-150948000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:150947600-150948000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:150947600-150948000	Flanking Active TSS	Placenta	Placenta
50	chr1:150947600-150948000	Enhancers	Lung	lung

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