Variant report

Variant	rs542491478
Chromosome Location	chr1:225977054-225977055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225972838..225977175-chr1:225978955..225982654,5	K562	blood:
2	chr1:225975331..225978238-chr1:225997239..225999309,2	MCF-7	breast:
3	chr1:225975459..225978007-chr1:225998232..226000787,2	K562	blood:
4	chr1:225976942..225979751-chr1:225984143..225986122,2	K562	blood:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv945326	chr1:225977045-225978464	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:225967800-225980200	Weak transcription	Stomach Mucosa	stomach
4	chr1:225968200-225980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:225968600-225978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:225969000-225977200	Strong transcription	HMEC	breast
7	chr1:225969800-225983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:225970000-225978400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr1:225970200-225978600	Strong transcription	Fetal Thymus	thymus
10	chr1:225970200-225979800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:225970200-225983200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:225970400-225977200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:225970600-225977400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:225970600-225978400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:225970600-225978400	Strong transcription	Dnd41	blood
16	chr1:225970600-225980000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:225970600-225980600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:225970600-225981800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:225970800-225977200	Strong transcription	K562	blood
20	chr1:225970800-225977400	Strong transcription	Liver	Liver
21	chr1:225970800-225978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:225970800-225982200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:225971000-225979200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:225971000-225979200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:225971200-225977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:225971200-225978600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:225971200-225978800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:225971200-225979600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:225971200-225979800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:225971200-225980000	Strong transcription	NH-A	brain
31	chr1:225971200-225980000	Strong transcription	Osteobl	bone
32	chr1:225971400-225977200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:225971400-225977400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:225971400-225978400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:225971400-225978600	Strong transcription	Placenta	Placenta
36	chr1:225971400-225980000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:225971600-225977200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:225971600-225977400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:225971600-225978200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:225971600-225978400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:225971600-225982800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:225971800-225977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:225971800-225978400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:225971800-225978400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:225971800-225980200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:225972200-225978600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:225972400-225980000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:225972800-225977200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr1:225972800-225979800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:225973000-225978600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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