Variant report

Variant	rs6426103
Chromosome Location	chr1:226263723-226263724
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr1:226258835..226263842-chr1:226306097..226310860,6	K562	blood:
5	chr1:226261864..226264006-chr1:226295476..226297879,2	MCF-7	breast:
6	chr1:226263073..226265688-chr1:226283492..226286282,2	K562	blood:
7	chr1:226262247..226264355-chr1:226268888..226270936,2	MCF-7	breast:
8	chr1:226248158..226251632-chr1:226261132..226264473,3	MCF-7	breast:
9	chr1:226108541..226110324-chr1:226263223..226265933,2	K562	blood:
10	chr1:226262486..226265273-chr1:226296907..226299261,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11583604	1.00[YRI][hapmap]
rs11590418	1.00[YRI][hapmap]
rs12028456	1.00[YRI][hapmap]
rs1219664	1.00[AFR][1000 genomes]
rs1219666	1.00[AFR][1000 genomes]
rs12746908	1.00[YRI][hapmap]
rs2666855	1.00[AFR][1000 genomes]
rs3954082	1.00[AFR][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:122 , 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	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
5	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:226254600-226263800	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:226254600-226266000	Weak transcription	Psoas Muscle	Psoas
8	chr1:226254600-226270400	Weak transcription	Right Ventricle	heart
9	chr1:226256600-226263800	Strong transcription	Fetal Thymus	thymus
10	chr1:226256600-226270400	Weak transcription	Pancreas	Pancrea
11	chr1:226256600-226270600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:226257600-226263800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:226257600-226265000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:226257800-226270400	Weak transcription	Stomach Mucosa	stomach
15	chr1:226258000-226270400	Weak transcription	Ovary	ovary
16	chr1:226258000-226270400	Weak transcription	NHEK	skin
17	chr1:226258000-226270600	Weak transcription	Lung	lung
18	chr1:226258200-226270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:226258200-226270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:226258600-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:226258600-226270400	Weak transcription	Esophagus	oesophagus
22	chr1:226258800-226270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226258800-226270600	Weak transcription	Gastric	stomach
24	chr1:226259000-226267600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:226259000-226270400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:226259200-226270400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:226259200-226270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:226260000-226270400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:226260000-226270600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:226260400-226265000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:226260400-226270200	Weak transcription	Hela-S3	cervix
32	chr1:226260400-226270400	Weak transcription	Colonic Mucosa	Colon
33	chr1:226260600-226270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:226260600-226270400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:226260600-226270400	Weak transcription	Brain Substantia Nigra	brain
36	chr1:226260600-226270400	Weak transcription	NHLF	lung
37	chr1:226260800-226270600	Weak transcription	Fetal Brain Male	brain
38	chr1:226261000-226266200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:226261000-226266400	Weak transcription	HSMMtube	muscle
40	chr1:226261000-226270400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:226261000-226270400	Weak transcription	HMEC	breast
42	chr1:226261200-226265000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:226261200-226266000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226261200-226266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:226261200-226266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:226261200-226266400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:226261200-226270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:226261200-226270200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:226261200-226270200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:226261200-226270200	Weak transcription	Brain Inferior Temporal Lobe	brain

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