Variant report

Variant	rs6426101
Chromosome Location	chr1:226262415-226262416
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226252587..226254358-chr1:226261126..226263973,2	MCF-7	breast:
2	chr1:226261992..226263896-chr1:226264749..226266736,2	MCF-7	breast:
3	chr1:226252767..226255693-chr1:226262385..226264510,2	MCF-7	breast:
4	chr1:226186269..226189021-chr1:226261635..226263300,2	K562	blood:
5	chr1:226258835..226263842-chr1:226306097..226310860,6	K562	blood:
6	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
7	chr1:226261864..226264006-chr1:226295476..226297879,2	MCF-7	breast:
8	chr1:226262247..226264355-chr1:226268888..226270936,2	MCF-7	breast:
9	chr1:226248786..226251672-chr1:226260844..226263212,2	MCF-7	breast:
10	chr1:226186269..226188248-chr1:226260401..226263300,2	K562	blood:
11	chr1:226260970..226263013-chr1:226283017..226285743,2	K562	blood:
12	chr1:226260420..226263013-chr1:226284243..226287339,3	K562	blood:
13	chr1:226248158..226251632-chr1:226261132..226264473,3	MCF-7	breast:
14	chr1:226260174..226262494-chr11:65265384..65267097,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1912664	1.00[EUR][1000 genomes]
rs4636422	1.00[EUR][1000 genomes]
rs58125263	0.87[AFR][1000 genomes]
rs59361210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61156352	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676395	1.00[EUR][1000 genomes]
rs73100562	1.00[EUR][1000 genomes]
rs7513663	1.00[EUR][1000 genomes]
rs7524997	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
4	chr1:226253400-226263000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:226253400-226263200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:226253400-226263400	Strong transcription	Placenta	Placenta
7	chr1:226253600-226263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
9	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226254400-226263000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:226254600-226262600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:226254600-226262600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:226254600-226262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:226254600-226262800	Strong transcription	Osteobl	bone
15	chr1:226254600-226263000	Strong transcription	HUVEC	blood vessel
16	chr1:226254600-226263200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:226254600-226263600	Strong transcription	Adipose Nuclei	Adipose
18	chr1:226254600-226263800	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:226254600-226266000	Weak transcription	Psoas Muscle	Psoas
20	chr1:226254600-226270400	Weak transcription	Right Ventricle	heart
21	chr1:226254800-226262600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:226254800-226263600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:226255000-226262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:226255200-226262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:226255200-226262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:226255400-226263000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:226255400-226263200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:226256200-226263400	Strong transcription	Liver	Liver
29	chr1:226256400-226262600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:226256400-226262800	Strong transcription	Fetal Lung	lung
31	chr1:226256600-226262800	Strong transcription	Dnd41	blood
32	chr1:226256600-226263200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:226256600-226263400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:226256600-226263800	Strong transcription	Fetal Thymus	thymus
35	chr1:226256600-226270400	Weak transcription	Pancreas	Pancrea
36	chr1:226256600-226270600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:226256800-226262800	Strong transcription	GM12878-XiMat	blood
38	chr1:226257600-226263200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:226257600-226263800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:226257600-226265000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:226257800-226263000	Strong transcription	Primary T cells from cord blood	blood
42	chr1:226257800-226263200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:226257800-226270400	Weak transcription	Stomach Mucosa	stomach
44	chr1:226258000-226262600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:226258000-226263000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:226258000-226270400	Weak transcription	Ovary	ovary
47	chr1:226258000-226270400	Weak transcription	NHEK	skin
48	chr1:226258000-226270600	Weak transcription	Lung	lung
49	chr1:226258200-226270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:226258200-226270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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