Variant report

Variant	rs6426859
Chromosome Location	chr1:154600372-154600373
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154530639..154532673-chr1:154599012..154601442,2	K562	blood:
2	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
3	chr1:154523967..154525511-chr1:154600222..154602147,2	MCF-7	breast:
4	chr1:154579004..154583932-chr1:154594616..154602031,16	K562	blood:
5	chr1:154573864..154581870-chr1:154594652..154602962,18	K562	blood:
6	chr1:154574387..154584697-chr1:154596875..154603021,22	MCF-7	breast:
7	chr1:154581100..154581657-chr1:154600011..154600591,2	MCF-7	breast:
8	chr1:154575429..154582917-chr1:154596773..154602552,13	MCF-7	breast:
9	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
10	chr1:154538647..154541547-chr1:154599506..154601498,3	K562	blood:
11	chr1:154583710..154591836-chr1:154598416..154602140,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268141	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000160716	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1304059	1.00[EUR][1000 genomes]
rs1395564	1.00[EUR][1000 genomes]
rs1494396	1.00[YRI][hapmap]
rs1963043	1.00[EUR][1000 genomes]
rs2131899	1.00[EUR][1000 genomes]
rs4845655	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4845656	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6426862	1.00[YRI][hapmap]
rs6690287	1.00[EUR][1000 genomes]
rs6700656	1.00[EUR][1000 genomes]
rs9427111	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
4	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	18 gene(s)	inside rSNPs	diseases
6	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154599000-154600800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154599000-154601000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:154599000-154601000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:154599200-154600600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:154599200-154600800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:154599200-154600800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154599200-154600800	Active TSS	Fetal Intestine Large	intestine
8	chr1:154599200-154600800	Active TSS	NHLF	lung
9	chr1:154599200-154601000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:154599200-154601000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:154599400-154600600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:154599400-154600600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:154599400-154600600	Active TSS	GM12878-XiMat	blood
14	chr1:154599400-154600600	Active TSS	HMEC	breast
15	chr1:154599400-154600800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:154599400-154600800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:154599400-154600800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:154599400-154600800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:154599400-154600800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:154599400-154600800	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:154599400-154600800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:154599400-154600800	Active TSS	Ovary	ovary
23	chr1:154599400-154601000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:154599400-154601000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:154599400-154601000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:154599600-154600400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:154599600-154600400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:154599600-154600400	Transcr. at gene 5' and 3'	Right Atrium	heart
29	chr1:154599600-154600400	Active TSS	Spleen	Spleen
30	chr1:154599600-154600400	Active TSS	Dnd41	blood
31	chr1:154599600-154600600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:154599600-154600600	Active TSS	Primary T cells from cord blood	blood
33	chr1:154599600-154600600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:154599600-154600600	Active TSS	Hela-S3	cervix
35	chr1:154599600-154600600	Active TSS	HUVEC	blood vessel
36	chr1:154599600-154600600	Active TSS	NH-A	brain
37	chr1:154599600-154600600	Active TSS	NHEK	skin
38	chr1:154599600-154600800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:154599600-154600800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:154599600-154600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:154599600-154600800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:154599600-154600800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:154599600-154600800	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:154599600-154600800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:154599600-154600800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:154599600-154600800	Active TSS	Aorta	Aorta
47	chr1:154599600-154600800	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:154599600-154600800	Active TSS	Colonic Mucosa	Colon
49	chr1:154599600-154600800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:154599600-154600800	Active TSS	Fetal Brain Female	brain

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