Variant report

Variant	rs74099285
Chromosome Location	chr1:85745240-85745241
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	SMARCC1	chr1:85744532-85745314	Hela-S3	cervix:	n/a	n/a
2	JUN	chr1:85744425-85745740	K562	blood:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744731-85744739
3	POLR2A	chr1:85744509-85745361	GM12892	blood:	n/a	n/a
4	JUND	chr1:85744309-85745294	SK-N-SH	brain:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
5	POLR2A	chr1:85745105-85745336	K562	blood:	n/a	n/a
6	POLR2A	chr1:85744335-85745541	HUVEC	blood vessel:	n/a	n/a
7	CBX3	chr1:85745217-85745704	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85744913..85746846-chr1:85930995..85932650,2	MCF-7	breast:
2	chr1:85745110..85747638-chr1:85749252..85751382,2	K562	blood:
3	chr1:85744748..85747168-chr1:85749238..85751854,3	MCF-7	breast:
4	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:
5	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:
6	chr1:85739297..85743309-chr1:85744628..85748559,4	MCF-7	breast:
7	chr1:85741114..85742845-chr1:85745052..85746553,2	MCF-7	breast:

Variant related genes	Relation type
BCL10	TF binding region
ENSG00000264380	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000142867	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000272691	Chromatin interaction
ENSG00000223653	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11800577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56380810	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:85743000-85746000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:85743000-85747400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
6	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
7	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
8	chr1:85743200-85745800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:85743200-85747800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:85743200-85747800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:85743200-85747800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:85743200-85748000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:85743200-85748200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:85743400-85748000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:85743400-85748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:85744000-85745800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:85744200-85745400	Enhancers	Fetal Intestine Small	intestine
19	chr1:85744400-85745400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85744400-85745400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:85744400-85745400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:85744400-85745400	Enhancers	Fetal Intestine Large	intestine
23	chr1:85744400-85745400	Enhancers	Small Intestine	intestine
24	chr1:85744400-85745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:85744400-85745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:85744400-85745600	Enhancers	Stomach Mucosa	stomach
27	chr1:85744600-85745400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:85744600-85745400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:85744600-85745400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:85744600-85745400	Flanking Active TSS	HSMM	muscle
31	chr1:85744600-85745600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:85744600-85745600	Enhancers	Gastric	stomach
33	chr1:85744600-85745600	Enhancers	Pancreas	Pancrea
34	chr1:85744600-85745800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:85744800-85745400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:85744800-85745400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:85744800-85745400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85744800-85745400	Enhancers	Colonic Mucosa	Colon
39	chr1:85744800-85745400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr1:85744800-85745600	Enhancers	Esophagus	oesophagus
41	chr1:85744800-85745600	Enhancers	Spleen	Spleen
42	chr1:85744800-85745600	Flanking Active TSS	HepG2	liver
43	chr1:85744800-85745800	Enhancers	Lung	lung
44	chr1:85745000-85745600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:85745000-85745600	Enhancers	Left Ventricle	heart
46	chr1:85745200-85745400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:85745200-85745400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85745200-85745400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:85745200-85745400	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:85745200-85745400	Enhancers	Rectal Mucosa Donor 29	rectum

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