Variant report

Variant	rs556647596
Chromosome Location	chr1:155530446-155530447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr1:155530272-155530526	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:155530257-155530525	T-47D	breast:	n/a	n/a
3	POLR2A	chr1:155530289-155534117	GM12878	blood:	n/a	n/a
4	HEY1	chr1:155530426-155534124	K562	blood:	n/a	chr1:155532541-155532556
5	FOXA1	chr1:155530199-155530555	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:155530275-155532622	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155530423-155530473	PrEC	prostate:	n/a
2	chr1:155530423-155530473	SK-N-SH	brain:	n/a
3	chr1:155530423-155530473	HL-60	blood:	n/a
4	chr1:155530423-155530473	Jurkat	blood:	n/a
5	chr1:155530423-155530473	HIPEpiC	eye:	n/a
6	chr1:155530423-155530473	NB4	blood:	n/a
7	chr1:155530423-155530473	HRPEpiC	eye:	n/a
8	chr1:155530423-155530473	U87	brain:	n/a
9	chr1:155530423-155530473	GM12892	blood:	n/a
10	chr1:155530423-155530473	HNPCEpiC	eye:	n/a
11	chr1:155530423-155530473	Hepatocyte	liver:	n/a
12	chr1:155530423-155530473	SKMC	muscle:	n/a
13	chr1:155530423-155530473	NT2-D1	testis:	n/a
14	chr1:155530423-155530473	ProgFib	skin:	n/a
15	chr1:155530423-155530473	HAEpiC	amniotic membrane:	n/a
16	chr1:155530423-155530473	GM12891	blood:	n/a
17	chr1:155530423-155530473	NHDF-neo	bronchial:	n/a
18	chr1:155530423-155530473	H1-hESC	embryonic stem cell:	embryo
19	chr1:155530423-155530473	MCF-7	breast:	n/a
20	chr1:155530423-155530473	A549	lung:	n/a
21	chr1:155530423-155530473	SK-N-MC	brain:	n/a
22	chr1:155530423-155530473	NH-A	brain:	n/a
23	chr1:155530423-155530473	HUVEC	blood vessel:	n/a
24	chr1:155530423-155530473	AG04450	lung:	fetal
25	chr1:155530423-155530473	HMEC	breast:	n/a
26	chr1:155530423-155530473	CMK	blood:	n/a
27	chr1:155530423-155530473	LNCaP	prostate:	n/a
28	chr1:155530423-155530473	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:155530423-155530473	ovcar-3	ovarian:	n/a
30	chr1:155530423-155530473	MCF10A-Er-Src	breast:	n/a
31	chr1:155530423-155530473	BJ	skin:	n/a
32	chr1:155530423-155530473	HepG2	liver:	n/a
33	chr1:155530423-155530473	AG09309	skin:	n/a
34	chr1:155530423-155530473	IMR90	lung:	fetal
35	chr1:155530423-155530473	SK-N-SH_RA	brain:	n/a
36	chr1:155530423-155530473	HRCEpiC	kidney:	n/a
37	chr1:155530423-155530473	HCF	heart:	n/a
38	chr1:155530423-155530473	Hela-S3	cervix:	n/a
39	chr1:155530423-155530473	HEEpiC	esophagus:	n/a
40	chr1:155530423-155530473	T-47D	breast:	n/a
41	chr1:155530423-155530473	HCPEpiC	choroid plexus:	n/a
42	chr1:155530423-155530473	HCM	heart:	n/a
43	chr1:155530423-155530473	ECC-1	luminal epithelium:	n/a
44	chr1:155530423-155530473	AG09319	gingival:	n/a
45	chr1:155530423-155530473	AG10803	skin:	n/a
46	chr1:155530423-155530473	GM12878	blood:	n/a
47	chr1:155530423-155530473	AoSMC	blood vessel:	n/a
48	chr1:155530423-155530473	PFSK-1	brain:	n/a
49	chr1:155530423-155530473	HEK293	kidney:	embryo
50	chr1:155530423-155530473	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155520429..155523505-chr1:155527684..155531607,4	K562	blood:

No data

Variant related genes	Relation type
ASH1L-AS1	TF binding region
ASH1L-AS1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv946417	chr1:155529941-155533143	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155517000-155531400	Weak transcription	Esophagus	oesophagus
2	chr1:155518200-155531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155518600-155531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:155522200-155531400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:155526200-155531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:155526200-155531800	Weak transcription	Lung	lung
7	chr1:155526600-155530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:155526800-155530600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:155526800-155530600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:155526800-155531400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:155527600-155530600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:155527600-155530800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:155527800-155530800	Enhancers	Liver	Liver
14	chr1:155528600-155530800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:155528600-155530800	Enhancers	Fetal Brain Male	brain
16	chr1:155528800-155531400	Weak transcription	Placenta	Placenta
17	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
18	chr1:155529200-155531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:155529400-155530600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:155529400-155530600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:155529400-155530800	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:155529400-155530800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:155529400-155530800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:155529600-155530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:155529600-155530600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:155529600-155530600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:155529600-155530600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:155529600-155530800	Enhancers	Fetal Stomach	stomach
29	chr1:155529800-155530600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:155529800-155530600	Flanking Active TSS	HepG2	liver
31	chr1:155530000-155530600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:155530000-155530600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:155530000-155530600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:155530000-155530600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:155530000-155530600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:155530000-155530600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:155530000-155530600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:155530000-155530600	Enhancers	Stomach Mucosa	stomach
39	chr1:155530000-155530600	Flanking Active TSS	K562	blood
40	chr1:155530000-155530600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:155530000-155530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:155530000-155531200	Enhancers	Primary B cells from cord blood	blood
43	chr1:155530000-155531200	Flanking Active TSS	Dnd41	blood
44	chr1:155530200-155530600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:155530200-155530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:155530200-155530600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:155530200-155530600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:155530200-155530600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:155530200-155530600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:155530200-155530600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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