Variant report

Variant	rs576938348
Chromosome Location	chr1:154466221-154466222
allele	A/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	EBF1	chr1:154466017-154466232	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:154465332-154466539	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:154465704-154466313	HUVEC	blood vessel:	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:59 , 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	chr1:154463200-154467600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:154464000-154466600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:154464000-154472400	Weak transcription	Lung	lung
10	chr1:154464200-154466600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:154464200-154466800	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:154464200-154467600	Weak transcription	Right Ventricle	heart
13	chr1:154464600-154466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:154464600-154466600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:154464600-154466600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:154464600-154467000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:154464800-154466600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:154464800-154466600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:154464800-154466600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:154464800-154466600	Enhancers	GM12878-XiMat	blood
21	chr1:154464800-154466800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:154464800-154467400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:154464800-154469800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:154465000-154466600	Enhancers	K562	blood
25	chr1:154465000-154466600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:154465000-154467000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:154465000-154469000	Weak transcription	Left Ventricle	heart
28	chr1:154465000-154469000	Weak transcription	Right Atrium	heart
29	chr1:154465200-154466600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:154465400-154466400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:154465400-154466400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:154465400-154466400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:154465400-154466400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:154465600-154466400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:154465600-154466400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:154465600-154466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:154465600-154466400	Flanking Active TSS	HUVEC	blood vessel
38	chr1:154465600-154466600	Enhancers	Liver	Liver
39	chr1:154465800-154466400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:154465800-154466400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:154466000-154466400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:154466000-154466400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:154466000-154466400	Enhancers	Fetal Thymus	thymus
44	chr1:154466000-154466400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:154466000-154466600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:154466000-154466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:154466200-154466400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154466200-154466400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:154466200-154466400	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr1:154466200-154466600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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