Variant report

Variant	rs55874907
Chromosome Location	chr1:153903129-153903130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153901414..153903833-chr1:153945059..153949290,4	K562	blood:
2	chr1:153898160..153899856-chr1:153901666..153904160,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12117078	1.00[AFR][1000 genomes]
rs17364880	1.00[AFR][1000 genomes]
rs2230324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 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	chr1:153896400-153903200	Weak transcription	Psoas Muscle	Psoas
2	chr1:153896600-153903400	Weak transcription	Colonic Mucosa	Colon
3	chr1:153896600-153906400	Weak transcription	Small Intestine	intestine
4	chr1:153896600-153906400	Weak transcription	NH-A	brain
5	chr1:153896600-153908200	Weak transcription	Stomach Mucosa	stomach
6	chr1:153896600-153908200	Weak transcription	HSMM	muscle
7	chr1:153896800-153903200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:153896800-153904600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:153896800-153907200	Weak transcription	HSMMtube	muscle
10	chr1:153896800-153908000	Weak transcription	Fetal Kidney	kidney
11	chr1:153896800-153910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:153896800-153917600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:153897000-153907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:153897000-153908000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:153897000-153908000	Weak transcription	HepG2	liver
16	chr1:153897000-153908200	Weak transcription	HMEC	breast
17	chr1:153897000-153916400	Weak transcription	Fetal Brain Male	brain
18	chr1:153897200-153904600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:153897200-153904600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:153897200-153905000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:153897200-153910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:153897400-153903200	Weak transcription	Hela-S3	cervix
23	chr1:153897400-153916600	Weak transcription	Fetal Heart	heart
24	chr1:153900200-153903400	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:153900600-153903200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:153900600-153903200	Enhancers	Brain Angular Gyrus	brain
27	chr1:153901000-153913800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:153901000-153915400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:153901000-153915600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:153901000-153916400	Strong transcription	Fetal Thymus	thymus
31	chr1:153901200-153903600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:153901200-153910200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:153901200-153912800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:153901200-153914800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:153901200-153915600	Strong transcription	Primary T cells from cord blood	blood
36	chr1:153901400-153903200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:153901400-153905400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr1:153901400-153913600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:153901400-153913600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:153901400-153914800	Strong transcription	Primary B cells from cord blood	blood
41	chr1:153901400-153915800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr1:153901400-153915800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:153901400-153916400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:153901400-153916400	Strong transcription	Brain Germinal Matrix	brain
45	chr1:153901400-153916400	Strong transcription	Fetal Intestine Large	intestine
46	chr1:153901400-153916600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:153901400-153916600	Strong transcription	Fetal Stomach	stomach
48	chr1:153901400-153916800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:153901400-153916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:153901400-153917200	Strong transcription	Fetal Intestine Small	intestine

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