Variant report

Variant	rs9448742
Chromosome Location	chr6:80255139-80255140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80233865..80235621-chr6:80253239..80255596,2	K562	blood:
2	chr6:80247904..80250067-chr6:80253206..80255779,2	MCF-7	breast:
3	chr6:79786946..79788566-chr6:80255093..80257273,2	MCF-7	breast:
4	chr6:80253997..80256924-chr6:80273838..80276690,2	K562	blood:
5	chr6:80253524..80256684-chr6:80260175..80262968,4	K562	blood:
6	chr6:80246201..80249127-chr6:80252156..80255932,7	MCF-7	breast:
7	chr6:80232386..80237378-chr6:80253283..80257767,7	K562	blood:

Variant related genes	Relation type
ENSG00000146247	Chromatin interaction
ENSG00000135338	Chromatin interaction
ENSG00000261970	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10223566	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12178357	0.84[AFR][1000 genomes]
rs16890780	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35338066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6925849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751498	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753591	0.88[YRI][hapmap]
rs7760022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763178	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443676	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs9443677	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443680	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80247600-80267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:80247800-80256800	Weak transcription	Lung	lung
3	chr6:80247800-80257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:80247800-80257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:80247800-80257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:80248000-80262000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:80248600-80262800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:80248600-80262800	Weak transcription	Liver	Liver
9	chr6:80248800-80257000	Weak transcription	Pancreas	Pancrea
10	chr6:80248800-80258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:80248800-80262000	Weak transcription	Psoas Muscle	Psoas
12	chr6:80248800-80272000	Weak transcription	Ovary	ovary
13	chr6:80249400-80262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:80252000-80256000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:80252600-80256800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:80252800-80256200	Enhancers	HSMM	muscle
17	chr6:80253000-80255200	Enhancers	Fetal Stomach	stomach
18	chr6:80253000-80256200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:80253000-80256200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:80253000-80256400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:80253000-80256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:80253200-80256000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:80253200-80256200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:80253200-80256400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:80253400-80256200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:80253600-80255400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:80253600-80256200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:80253600-80256200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:80253800-80255200	Enhancers	Fetal Heart	heart
30	chr6:80253800-80255200	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:80253800-80255400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:80253800-80255600	Enhancers	HMEC	breast
33	chr6:80254000-80255600	Enhancers	Hela-S3	cervix
34	chr6:80254000-80255800	Enhancers	NHDF-Ad	bronchial
35	chr6:80254000-80256000	Enhancers	NHEK	skin
36	chr6:80254200-80257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:80254200-80257000	Weak transcription	Spleen	Spleen
38	chr6:80254200-80257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:80254400-80255200	Active TSS	Brain Angular Gyrus	brain
40	chr6:80254400-80255200	Active TSS	Brain Anterior Caudate	brain
41	chr6:80254400-80255200	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:80254400-80255200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:80254400-80256000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:80254400-80256000	Weak transcription	Small Intestine	intestine
45	chr6:80254400-80262200	Weak transcription	Placenta	Placenta
46	chr6:80254400-80267800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:80254400-80271400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:80254400-80273000	Weak transcription	Left Ventricle	heart
49	chr6:80254600-80255200	Active TSS	Brain Hippocampus Middle	brain
50	chr6:80254600-80255200	Active TSS	Brain Inferior Temporal Lobe	brain

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