Variant report

Variant	rs606426
Chromosome Location	chr1:147088236-147088237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147080732..147087681-chr1:147088199..147092860,8	MCF-7	breast:
2	chr1:147083132..147086274-chr1:147086723..147089661,3	K562	blood:
3	chr1:147080365..147082940-chr1:147087915..147089466,2	MCF-7	breast:
4	chr1:147071074..147073382-chr1:147087884..147091138,3	MCF-7	breast:
5	chr1:147087103..147088876-chr1:147097968..147100561,2	K562	blood:
6	chr1:147083875..147087188-chr1:147087478..147091298,5	MCF-7	breast:
7	chr1:147085715..147088647-chr1:147093159..147095698,2	K562	blood:
8	chr1:147071530..147073456-chr1:147087258..147090515,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116128	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1086601	1.00[AMR][1000 genomes]
rs12072836	1.00[AFR][1000 genomes]
rs2220950	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	20 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	chr1:147072800-147101200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:147073000-147089000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:147073000-147089800	Weak transcription	K562	blood
4	chr1:147073000-147095000	Weak transcription	HMEC	breast
5	chr1:147073000-147097200	Weak transcription	Stomach Mucosa	stomach
6	chr1:147073200-147089600	Weak transcription	NHLF	lung
7	chr1:147073200-147091000	Weak transcription	NHEK	skin
8	chr1:147073400-147088600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:147073400-147088800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:147075800-147099800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:147076400-147098600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:147076800-147094600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:147076800-147096800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:147077600-147089200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:147077800-147090800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:147077800-147097000	Strong transcription	Fetal Brain Female	brain
17	chr1:147078000-147094600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:147078600-147090000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:147078600-147097000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:147080000-147097400	Weak transcription	Small Intestine	intestine
21	chr1:147082400-147098000	Strong transcription	Brain Germinal Matrix	brain
22	chr1:147082600-147089200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:147082600-147089400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:147082600-147089800	Strong transcription	Fetal Thymus	thymus
25	chr1:147082600-147090800	Strong transcription	Primary B cells from cord blood	blood
26	chr1:147082600-147091800	Strong transcription	Hela-S3	cervix
27	chr1:147082800-147089200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:147082800-147089400	Strong transcription	Primary T cells from cord blood	blood
29	chr1:147082800-147096600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:147083000-147088400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:147083000-147094000	Strong transcription	Placenta	Placenta
32	chr1:147083000-147096800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:147083000-147096800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:147083200-147088400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:147083200-147094200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:147083200-147095000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr1:147083200-147096800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:147083200-147096800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:147083200-147096800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:147083600-147091800	Strong transcription	NH-A	brain
41	chr1:147083600-147093000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:147083600-147094600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:147083600-147096800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:147083600-147096800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:147083600-147096800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:147084000-147097000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:147084200-147090000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:147084200-147090400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:147084200-147096400	Strong transcription	Fetal Intestine Large	intestine
50	chr1:147084200-147096800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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