Variant report

Variant	rs548873454
Chromosome Location	chr1:47052782-47052783
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	POLR2A	chr1:47052738-47053217	HL-60	blood:	n/a	n/a
2	SPI1	chr1:47052708-47053276	HL-60	blood:	n/a	chr1:47052938-47052945 chr1:47052849-47052856
3	POLR2A	chr1:47052698-47053247	HL-60	blood:	n/a	n/a
4	SPI1	chr1:47052759-47053155	HL-60	blood:	n/a	chr1:47052938-47052945 chr1:47052849-47052856

No.	Distal block	Cell Line	Cell type
1	chr1:47028417..47031367-chr1:47051984..47053721,2	K562	blood:
2	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
3	chr1:47052104..47053858-chr1:47055220..47057402,2	K562	blood:

Variant related genes	Relation type
MKNK1	TF binding region
ENSG00000079277	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3441230	chr1:47052561-47052944	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
2	chr1:47021800-47054600	Weak transcription	A549	lung
3	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
4	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:47023800-47053200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
7	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
8	chr1:47035200-47053000	Strong transcription	Spleen	Spleen
9	chr1:47035600-47053400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:47036000-47056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:47036000-47060000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:47036400-47053200	Strong transcription	Fetal Stomach	stomach
13	chr1:47037800-47057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:47038400-47053200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:47039000-47054800	Weak transcription	Hela-S3	cervix
16	chr1:47039200-47053000	Weak transcription	Right Atrium	heart
17	chr1:47039200-47060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:47039600-47060000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:47040000-47053000	Strong transcription	Left Ventricle	heart
20	chr1:47040000-47053200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:47040200-47060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:47040800-47053000	Strong transcription	NHEK	skin
23	chr1:47041000-47053600	Strong transcription	Aorta	Aorta
24	chr1:47041200-47053200	Strong transcription	Fetal Intestine Small	intestine
25	chr1:47041200-47054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:47041600-47053200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:47042200-47057200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:47042400-47052800	Strong transcription	Colon Smooth Muscle	Colon
29	chr1:47042400-47057200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:47042600-47060400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:47042800-47054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:47042800-47056600	Weak transcription	Small Intestine	intestine
34	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:47043600-47053600	Strong transcription	HMEC	breast
36	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:47046200-47056400	Weak transcription	NH-A	brain
38	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
39	chr1:47046400-47055200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:47046400-47057200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:47046600-47054800	Weak transcription	Stomach Mucosa	stomach
42	chr1:47046800-47053000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:47046800-47053200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:47046800-47054800	Weak transcription	HSMM	muscle
45	chr1:47047200-47053600	Strong transcription	Lung	lung
46	chr1:47047600-47053400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:47047800-47053000	Strong transcription	Primary T cells from cord blood	blood
48	chr1:47047800-47053200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:47047800-47060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:47048000-47055000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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