Variant report

Variant	rs375391326
Chromosome Location	chr1:154465995-154465996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154465880-154466030	GM12865	blood:	n/a	n/a
2	RUNX3	chr1:154465705-154466180	GM12878	blood:	n/a	n/a
3	CTCF	chr1:154465920-154466070	HUVEC	blood vessel:	n/a	n/a
4	YY1	chr1:154465804-154466022	K562	blood:	n/a	n/a
5	CTCF	chr1:154465860-154466010	GM12873	blood:	n/a	n/a
6	POLR2A	chr1:154465541-154466091	HUVEC	blood vessel:	n/a	n/a
7	RUNX3	chr1:154465741-154466123	GM12878	blood:	n/a	n/a
8	CTCF	chr1:154465900-154466050	HPAF	blood vessel:	n/a	n/a
9	POLR2A	chr1:154465601-154466194	HUVEC	blood vessel:	n/a	n/a
10	SPI1	chr1:154465767-154466066	HL-60	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
11	SPI1	chr1:154465733-154466074	GM12878	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
12	ELF1	chr1:154465678-154466032	GM12878	blood:	n/a	chr1:154465912-154465925 chr1:154465913-154465924
13	RCOR1	chr1:154465851-154466134	K562	blood:	n/a	n/a
14	CTCF	chr1:154465900-154466050	GM12874	blood:	n/a	n/a
15	UBTF	chr1:154465822-154466093	K562	blood:	n/a	n/a
16	CTCF	chr1:154465860-154466010	HUVEC	blood vessel:	n/a	n/a
17	SPI1	chr1:154465798-154466065	K562	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
18	MYC	chr1:154465877-154466052	HUVEC	blood vessel:	n/a	n/a
19	ELF1	chr1:154465754-154466074	K562	blood:	n/a	chr1:154465912-154465925 chr1:154465913-154465924
20	CTCF	chr1:154465860-154466010	HL-60	blood:	n/a	n/a
21	CTCF	chr1:154465920-154466070	K562	blood:	n/a	n/a
22	FOXP2	chr1:154465734-154466073	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr1:154465332-154466539	HUVEC	blood vessel:	n/a	n/a
24	SPI1	chr1:154465710-154466105	GM12891	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
25	SPI1	chr1:154465703-154466069	GM12891	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
26	MAZ	chr1:154465876-154466037	K562	blood:	n/a	n/a
27	CTCF	chr1:154465903-154466003	Spleen_OC	spleen:	n/a	n/a
28	SPI1	chr1:154465717-154466050	HL-60	blood:	n/a	chr1:154465928-154465937 chr1:154465929-154465936
29	CTCF	chr1:154465910-154466020	Pancreas_OC	pancreas:	n/a	n/a
30	POLR2A	chr1:154465704-154466313	HUVEC	blood vessel:	n/a	n/a
31	FOXP2	chr1:154465804-154466045	PFSK-1	brain:	n/a	n/a
32	UBTF	chr1:154465955-154466001	K562	blood:	n/a	n/a
33	GATA2	chr1:154465779-154466183	HUVEC	blood vessel:	n/a	chr1:154465916-154465926 chr1:154466000-154466014
34	CTCF	chr1:154465900-154466050	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154465559..154467468-chr1:154471181..154472753,2	K562	blood:
2	chr1:154456945..154459327-chr1:154465899..154468157,2	K562	blood:

Variant related genes	Relation type
SHE	TF binding region
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	esv1815481	chr1:154465065-154475033	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154458600-154469000	Weak transcription	Small Intestine	intestine
2	chr1:154461400-154466400	Enhancers	Spleen	Spleen
3	chr1:154461800-154467000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:154461800-154473800	Weak transcription	Pancreas	Pancrea
5	chr1:154462800-154467200	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:154463000-154468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:154463200-154466200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:154463200-154467600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:154464000-154466600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:154464000-154472400	Weak transcription	Lung	lung
11	chr1:154464200-154466600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:154464200-154466800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:154464200-154467600	Weak transcription	Right Ventricle	heart
14	chr1:154464600-154466000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:154464600-154466000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:154464600-154466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:154464600-154466600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:154464600-154466600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:154464600-154467000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:154464800-154466000	Bivalent Enhancer	Fetal Thymus	thymus
21	chr1:154464800-154466200	Enhancers	Brain Anterior Caudate	brain
22	chr1:154464800-154466600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:154464800-154466600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:154464800-154466600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:154464800-154466600	Enhancers	GM12878-XiMat	blood
26	chr1:154464800-154466800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:154464800-154467400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:154464800-154469800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:154465000-154466600	Enhancers	K562	blood
30	chr1:154465000-154466600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:154465000-154467000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:154465000-154469000	Weak transcription	Left Ventricle	heart
33	chr1:154465000-154469000	Weak transcription	Right Atrium	heart
34	chr1:154465200-154466600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:154465400-154466000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:154465400-154466000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:154465400-154466200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr1:154465400-154466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:154465400-154466400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:154465400-154466400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:154465400-154466400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr1:154465400-154466400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:154465600-154466000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:154465600-154466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:154465600-154466200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:154465600-154466200	Enhancers	Fetal Lung	lung
47	chr1:154465600-154466400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:154465600-154466400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:154465600-154466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:154465600-154466400	Flanking Active TSS	HUVEC	blood vessel

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