Variant report

Variant	rs55731027
Chromosome Location	chr1:62207275-62207276
allele	C/T
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	chr1:62207121-62209260	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:62207185-62209561	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:62207072-62209265	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr1:62207260-62207880	Hela-S3	cervix:	n/a	n/a
5	GTF3C2	chr1:62206704-62207338	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
2	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
3	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
4	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
INADL	TF binding region
ENSG00000162604	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3422069	chr1:62206889-62209737	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62204800-62207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:62206200-62207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix
9	chr1:62206800-62207400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:62206800-62207400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:62206800-62207400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:62206800-62207600	Enhancers	Small Intestine	intestine
13	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver
14	chr1:62207000-62207400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:62207000-62207600	Bivalent Enhancer	Fetal Thymus	thymus
16	chr1:62207000-62209800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:62207200-62207400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:62207200-62207400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:62207200-62207400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:62207200-62207400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:62207200-62207400	Enhancers	Primary T cells from cord blood	blood
22	chr1:62207200-62207400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:62207200-62207400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:62207200-62207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:62207200-62207400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:62207200-62207400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:62207200-62207400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:62207200-62207400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:62207200-62207400	Enhancers	Adipose Nuclei	Adipose
30	chr1:62207200-62207400	Enhancers	Liver	Liver
31	chr1:62207200-62207400	Active TSS	Brain Anterior Caudate	brain
32	chr1:62207200-62207400	Enhancers	Brain Germinal Matrix	brain
33	chr1:62207200-62207400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:62207200-62207400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:62207200-62207400	Enhancers	Fetal Brain Female	brain
36	chr1:62207200-62207400	Enhancers	Fetal Heart	heart
37	chr1:62207200-62207400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:62207200-62207400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:62207200-62207400	Enhancers	Stomach Mucosa	stomach
40	chr1:62207200-62207400	Enhancers	HUVEC	blood vessel
41	chr1:62207200-62207400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr1:62207200-62207600	Enhancers	Primary B cells from cord blood	blood
43	chr1:62207200-62207600	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:62207200-62207600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:62207200-62207600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:62207200-62207600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:62207200-62207600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:62207200-62207600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr1:62207200-62207600	Flanking Active TSS	Fetal Lung	lung
50	chr1:62207200-62207600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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