Variant report

Variant	rs149084026
Chromosome Location	chr1:151104371-151104372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:151103353-151104450	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr1:151103383-151104557	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr1:151103259-151106011	H1-hESC	embryonic stem cell:	n/a	chr1:151103613-151103620 chr1:151103613-151103620 chr1:151103612-151103621 chr1:151103612-151103624 chr1:151103969-151103979 chr1:151103613-151103620
4	POLR2A	chr1:151103584-151104424	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr1:151103388-151104921	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:151103375-151104674	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:151103318-151104732	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151104367-151104417	ProgFib	skin:	n/a
2	chr1:151104367-151104417	HIPEpiC	eye:	n/a
3	chr1:151104367-151104417	AoSMC	blood vessel:	n/a
4	chr1:151104367-151104417	PrEC	prostate:	n/a
5	chr1:151104367-151104417	HRE	kidney:	n/a
6	chr1:151104367-151104417	PANC-1	pancreas:	n/a
7	chr1:151104367-151104417	SKMC	muscle:	n/a
8	chr1:151104367-151104417	NB4	blood:	n/a
9	chr1:151104367-151104417	ovcar-3	ovarian:	n/a
10	chr1:151104367-151104417	HRPEpiC	eye:	n/a
11	chr1:151104367-151104417	A549	lung:	n/a
12	chr1:151104367-151104417	BJ	skin:	n/a
13	chr1:151104367-151104417	GM12892	blood:	n/a
14	chr1:151104367-151104417	SK-N-MC	brain:	n/a
15	chr1:151104367-151104417	Caco-2	colon:	n/a
16	chr1:151104367-151104417	GM06990	blood:	n/a
17	chr1:151104367-151104417	AG04450	lung:	fetal
18	chr1:151104367-151104417	HCF	heart:	n/a
19	chr1:151104367-151104417	Jurkat	blood:	n/a
20	chr1:151104367-151104417	HCPEpiC	choroid plexus:	n/a
21	chr1:151104367-151104417	Hela-S3	cervix:	n/a
22	chr1:151104367-151104417	AG09309	skin:	n/a
23	chr1:151104367-151104417	T-47D	breast:	n/a
24	chr1:151104367-151104417	GM19239	blood:	n/a
25	chr1:151104367-151104417	HCM	heart:	n/a
26	chr1:151104367-151104417	K562	blood:	n/a
27	chr1:151104367-151104417	HepG2	liver:	n/a
28	chr1:151104367-151104417	Hepatocyte	liver:	n/a
29	chr1:151104367-151104417	HEEpiC	esophagus:	n/a
30	chr1:151104367-151104417	MCF10A-Er-Src	breast:	n/a
31	chr1:151104367-151104417	NHBE	bronchial:	n/a
32	chr1:151104367-151104417	SAEC	small airway:	n/a
33	chr1:151104367-151104417	HNPCEpiC	eye:	n/a
34	chr1:151104367-151104417	NHDF-neo	bronchial:	n/a
35	chr1:151104367-151104417	RPTEC	kidney:	n/a
36	chr1:151104367-151104417	HL-60	blood:	n/a
37	chr1:151104367-151104417	ECC-1	luminal epithelium:	n/a
38	chr1:151104367-151104417	SK-N-SH_RA	brain:	n/a
39	chr1:151104367-151104417	BE2_C	brain:	n/a
40	chr1:151104367-151104417	HAEpiC	amniotic membrane:	n/a
41	chr1:151104367-151104417	HMEC	breast:	n/a
42	chr1:151104367-151104417	HRCEpiC	kidney:	n/a
43	chr1:151104367-151104417	U87	brain:	n/a
44	chr1:151104367-151104417	AG10803	skin:	n/a
45	chr1:151104367-151104417	HUVEC	blood vessel:	n/a
46	chr1:151104367-151104417	GM12878	blood:	n/a
47	chr1:151104367-151104417	H1-hESC	embryonic stem cell:	embryo
48	chr1:151104367-151104417	AG09319	gingival:	n/a
49	chr1:151104367-151104417	CMK	blood:	n/a
50	chr1:151104367-151104417	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:151101938..151104431-chr1:151107566..151109145,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261168	TF binding region
ENSG00000261168	CpG island
ENSG00000143434	Chromatin interaction

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	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	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
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872422	chr1:151098077-151115186	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv872423	chr1:151100612-151115997	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3399787	chr1:151104353-151106901	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
3	chr1:151079800-151114800	Weak transcription	HSMM	muscle
4	chr1:151090800-151105000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:151097800-151105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:151097800-151106000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:151103000-151104600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151103200-151104400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:151103200-151104400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:151103200-151104400	Active TSS	Fetal Kidney	kidney
11	chr1:151103200-151104600	Active TSS	Brain Anterior Caudate	brain
12	chr1:151103200-151106000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:151103400-151104400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:151103400-151104400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr1:151103400-151104400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:151103400-151104400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:151103400-151104400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr1:151103400-151104400	Active TSS	Aorta	Aorta
19	chr1:151103400-151104400	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:151103400-151104400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:151103400-151104400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:151103400-151104400	Flanking Active TSS	NHLF	lung
23	chr1:151103400-151104600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:151103400-151104600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151103400-151104600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:151103400-151104600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:151103400-151104600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:151103400-151104600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:151103400-151104600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
30	chr1:151103400-151104600	Active TSS	Osteobl	bone
31	chr1:151103400-151104800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:151103400-151104800	Flanking Active TSS	Fetal Brain Female	brain
33	chr1:151103400-151104800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:151103400-151104800	Flanking Active TSS	Placenta	Placenta
35	chr1:151103400-151105000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:151103400-151105000	Active TSS	Right Atrium	heart
37	chr1:151103400-151105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:151103400-151105800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151103400-151105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:151103400-151105800	Active TSS	Ovary	ovary
41	chr1:151103400-151106000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:151103400-151106200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:151103400-151106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:151103600-151104400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151103600-151104400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:151103600-151104400	Active TSS	Primary T cells from cord blood	blood
47	chr1:151103600-151104400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:151103600-151104400	Active TSS	Esophagus	oesophagus
49	chr1:151103600-151104400	Active TSS	Right Ventricle	heart
50	chr1:151103600-151104400	Flanking Active TSS	GM12878-XiMat	blood

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