Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209858876..209863587-chr1:209863612..209867489,5	K562	blood:
2	chr1:209749329..209750696-chr1:209865953..209867157,8	K562	blood:
3	chr1:209858876..209860743-chr1:209865909..209867489,2	K562	blood:
4	chr1:209742622..209744127-chr1:209864930..209867210,2	MCF-7	breast:
5	chr1:209751059..209753558-chr1:209865258..209867656,2	K562	blood:
6	chr1:209742414..209743881-chr1:209865939..209867133,12	K562	blood:

Variant related genes	Relation type
ENSG00000117594	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863780	0.85[ASN][1000 genomes]
rs12561766	1.00[CEU][hapmap]
rs17015078	1.00[CEU][hapmap]
rs1883442	0.85[ASN][1000 genomes]
rs2038053	1.00[CEU][hapmap]
rs2235543	0.81[CHB][hapmap]
rs2236902	1.00[CEU][hapmap]
rs2272866	1.00[CEU][hapmap]
rs2282740	1.00[CEU][hapmap]
rs2298930	1.00[CEU][hapmap]
rs3753519	0.81[CHB][hapmap]
rs4329516	1.00[CEU][hapmap]
rs4545339	1.00[CEU][hapmap]
rs4844893	1.00[CEU][hapmap]
rs4844894	1.00[CEU][hapmap]
rs6540547	1.00[CEU][hapmap]
rs6694238	1.00[CEU][hapmap]
rs7528642	1.00[CEU][hapmap]
rs760951	0.81[CHB][hapmap]
rs846908	1.00[CEU][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs846910	0.81[JPT][hapmap]
rs846914	0.89[ASW][hapmap];0.93[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209862800-209867600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:209863200-209869600	Weak transcription	Fetal Heart	heart
3	chr1:209863200-209870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:209865200-209867200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:209866200-209872200	Weak transcription	Thymus	Thymus
6	chr1:209866400-209869200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:209866400-209869200	Weak transcription	NHEK	skin
8	chr1:209866400-209870800	Weak transcription	Stomach Mucosa	stomach
9	chr1:209866600-209870000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:209866800-209870000	Weak transcription	HMEC	breast
11	chr1:209866800-209870400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:209866800-209870600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:209867000-209870000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:209867000-209875400	Weak transcription	Brain Anterior Caudate	brain

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