Variant report

Variant	rs182979897
Chromosome Location	chr1:46808377-46808378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46808184-46809855	K562	blood:	n/a	n/a
2	POLR2A	chr1:46805002-46809990	K562	blood:	n/a	n/a
3	POLR2A	chr1:46805856-46808690	GM12878	blood:	n/a	n/a
4	WRNIP1	chr1:46805990-46808708	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:46807922-46808581	Hela-S3	cervix:	n/a	n/a
6	CUX1	chr1:46807674-46808494	GM12878	blood:	n/a	n/a
7	IRF4	chr1:46807910-46808406	GM12878	blood:	n/a	n/a
8	EBF1	chr1:46807754-46808386	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:46808341-46808710	HepG2	liver:	n/a	n/a
10	EBF1	chr1:46807424-46809213	GM12878	blood:	n/a	n/a
11	HEY1	chr1:46808354-46809141	K562	blood:	n/a	n/a
12	EBF1	chr1:46807741-46808762	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:
2	chr1:46763061..46775205-chr1:46803159..46817121,53	K562	blood:
3	chr1:46775398..46777226-chr1:46806955..46809185,2	K562	blood:

No data

Variant related genes	Relation type
NSUN4	TF binding region
ENSG00000132128	Chromatin interaction
ENSG00000173660	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv470711	chr1:46660295-46810530	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv947254	chr1:46769363-46808918	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv12311	chr1:46805652-46810297	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv546163	chr1:46808042-46809782	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr1:46807000-46808800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr1:46807000-46810000	Enhancers	Fetal Heart	heart
3	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
4	chr1:46807200-46808400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:46807200-46808400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:46807200-46808400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:46807200-46808400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:46807200-46808600	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:46807200-46808800	Weak transcription	Ovary	ovary
10	chr1:46807200-46809400	Enhancers	Left Ventricle	heart
11	chr1:46807200-46809400	Weak transcription	Thymus	Thymus
12	chr1:46807200-46810200	Weak transcription	Aorta	Aorta
13	chr1:46807200-46810600	Weak transcription	Fetal Kidney	kidney
14	chr1:46807200-46818400	Weak transcription	Small Intestine	intestine
15	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:46807400-46808400	Weak transcription	Lung	lung
17	chr1:46807400-46808800	Genic enhancers	Placenta	Placenta
18	chr1:46807400-46809200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:46807400-46809400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:46807400-46809400	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr1:46807400-46809400	Genic enhancers	Fetal Muscle Leg	muscle
22	chr1:46807400-46809400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:46807400-46810200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:46807400-46810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:46807400-46810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:46807400-46813200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:46807400-46815200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:46807400-46820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
31	chr1:46807600-46808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:46807600-46808400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:46807600-46808400	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr1:46807600-46808400	Enhancers	HMEC	breast
35	chr1:46807600-46808600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:46807600-46808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:46807600-46808800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:46807600-46808800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:46807600-46809200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:46807600-46809400	Weak transcription	Fetal Brain Female	brain
41	chr1:46807600-46809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:46807600-46809600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:46807600-46809600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:46807600-46809600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:46807600-46810200	Weak transcription	Fetal Lung	lung
46	chr1:46807600-46810400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:46807600-46810400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:46807600-46810800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:46807600-46810800	Weak transcription	A549	lung
50	chr1:46807600-46813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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