Variant report

Variant	rs9468252
Chromosome Location	chr6:27870772-27870773
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27114577..27116314-chr6:27870225..27872245,2	K562	blood:
2	chr6:27869980..27872417-chr6:28062694..28065385,2	K562	blood:
3	chr6:27870372..27872373-chr6:27997352..27999344,2	K562	blood:
4	chr6:27868875..27870794-chr6:28109566..28111188,2	K562	blood:
5	chr6:27868676..27871582-chr6:27889227..27891930,6	K562	blood:
6	chr1:35657963..35660595-chr6:27869133..27871089,2	K562	blood:
7	chr6:27869786..27872331-chr6:28049938..28051848,2	K562	blood:
8	chr6:27869505..27871710-chr6:28702327..28704726,2	K562	blood:
9	chr6:27099506..27103105-chr6:27870143..27872034,3	K562	blood:
10	chr6:27869224..27870861-chr6:27906811..27908499,2	K562	blood:
11	chr6:27870121..27872000-chr6:28676419..28679069,2	K562	blood:
12	chr6:27870682..27873346-chr6:28302621..28304824,2	MCF-7	breast:
13	chr6:27869790..27872813-chr6:27932103..27935630,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000214374	Chromatin interaction
ENSG00000116560	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10046419	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs10046424	0.83[ASN][1000 genomes]
rs12178430	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332927	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap]
rs1497525	0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1497526	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs16893533	1.00[ASW][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16893540	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs16893549	0.82[AFR][1000 genomes]
rs17763319	0.82[CHB][hapmap]
rs17765402	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs17767294	0.82[CHB][hapmap]
rs1873212	0.82[EUR][1000 genomes]
rs1873213	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs6456803	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[LWK][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6900413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs73386649	0.82[EUR][1000 genomes]
rs73386659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394715	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73394718	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7760871	1.00[ASW][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9295750	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[LWK][hapmap]
rs9461420	0.87[ASN][1000 genomes]
rs9461424	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs9461425	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs9468249	0.86[EUR][1000 genomes]
rs9468250	0.86[EUR][1000 genomes]
rs9468254	0.88[JPT][hapmap];0.94[YRI][hapmap];0.87[ASN][1000 genomes]
rs9468255	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9468264	0.82[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap]
rs9885649	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
3	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
4	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
5	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27869600-27870800	Flanking Active TSS	Dnd41	blood
2	chr6:27869600-27871600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27869600-27871600	Active TSS	Hela-S3	cervix
4	chr6:27870000-27871000	Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:27870000-27871200	Active TSS	Fetal Muscle Leg	muscle
6	chr6:27870000-27871400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:27870000-27871400	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:27870000-27871400	Active TSS	Brain Angular Gyrus	brain
9	chr6:27870000-27871400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:27870000-27871400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:27870000-27871400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:27870000-27871400	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:27870000-27871400	Active TSS	HUVEC	blood vessel
14	chr6:27870000-27871600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:27870000-27871600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:27870000-27871600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:27870000-27871600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:27870000-27871600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:27870000-27871600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:27870000-27871600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:27870000-27871600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:27870000-27871600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:27870000-27871600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:27870000-27871600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr6:27870000-27871600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:27870000-27871600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:27870000-27871600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:27870000-27871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:27870000-27871600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:27870000-27871600	Active TSS	Brain Germinal Matrix	brain
31	chr6:27870000-27871600	Active TSS	Brain Hippocampus Middle	brain
32	chr6:27870000-27871600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:27870000-27871600	Active TSS	Duodenum Mucosa	Duodenum
34	chr6:27870000-27871600	Active TSS	Fetal Lung	lung
35	chr6:27870000-27871600	Active TSS	Fetal Stomach	stomach
36	chr6:27870000-27871600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr6:27870000-27871600	Active TSS	Rectal Smooth Muscle	rectum
38	chr6:27870000-27871600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:27870000-27871600	Active TSS	NHLF	lung
40	chr6:27870000-27871800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:27870000-27871800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:27870000-27871800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:27870000-27871800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:27870000-27871800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:27870000-27871800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:27870000-27871800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:27870000-27871800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:27870000-27871800	Active TSS	Fetal Brain Male	brain
49	chr6:27870000-27871800	Active TSS	Fetal Brain Female	brain
50	chr6:27870000-27871800	Active TSS	Fetal Intestine Large	intestine

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