Variant report

Variant	rs6675484
Chromosome Location	chr1:94146773-94146774
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94146697..94147495-chr11:68038998..68039926,2	Hela-S3	cervix:
2	chr1:94146477..94147235-chr19:36605467..36606382,2	Hela-S3	cervix:
3	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
4	chr1:94096921..94097933-chr1:94146005..94146828,3	MCF-7	breast:
5	chr1:94146452..94147094-chr5:79551449..79552398,2	Hela-S3	cervix:
6	chr1:94094810..94095721-chr1:94145946..94146885,3	MCF-7	breast:
7	chr1:94097057..94097800-chr1:94146342..94146876,2	MCF-7	breast:
8	chr1:94146402..94147127-chr6:133135595..133136405,2	Hela-S3	cervix:
9	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
10	chr1:93913059..93915471-chr1:94146480..94149352,2	MCF-7	breast:
11	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000164300	Chromatin interaction
ENSG00000105258	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1011903	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1011904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164962	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164963	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12057736	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12059154	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12079723	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12084853	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12092517	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1567791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61781002	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541386	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541387	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6541388	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541389	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6656270	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6657709	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6660740	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6684568	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6694536	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6701871	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6702036	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6704479	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7519952	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs955470	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9659100	0.83[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:94144400-94148200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:94144600-94148400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:94145000-94148000	Active TSS	Brain Anterior Caudate	brain
4	chr1:94145200-94148000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:94145400-94147600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:94145400-94147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:94145400-94148400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94145400-94148400	Active TSS	HSMM	muscle
9	chr1:94145600-94147600	Active TSS	Fetal Kidney	kidney
10	chr1:94145600-94147800	Active TSS	NHDF-Ad	bronchial
11	chr1:94145600-94148000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:94145600-94148200	Active TSS	A549	lung
13	chr1:94145800-94146800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:94145800-94146800	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:94145800-94147000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:94145800-94147400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:94145800-94147600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:94145800-94147600	Active TSS	Hela-S3	cervix
19	chr1:94145800-94148000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:94145800-94148000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:94145800-94148000	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr1:94145800-94148000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:94145800-94148200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:94146000-94146800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:94146000-94147200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
26	chr1:94146000-94147600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:94146000-94147600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:94146000-94147800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:94146000-94147800	Active TSS	Ovary	ovary
30	chr1:94146000-94148000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:94146000-94148200	Active TSS	Brain Angular Gyrus	brain
32	chr1:94146200-94146800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr1:94146200-94146800	Flanking Active TSS	K562	blood
34	chr1:94146200-94147000	Active TSS	Colonic Mucosa	Colon
35	chr1:94146200-94147200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:94146200-94147200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:94146200-94147200	Bivalent Enhancer	Fetal Heart	heart
38	chr1:94146200-94147400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:94146200-94147400	Active TSS	Esophagus	oesophagus
40	chr1:94146200-94147400	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr1:94146200-94147400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:94146200-94147600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:94146200-94147600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:94146200-94147600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:94146200-94147600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:94146200-94147600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:94146200-94147600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:94146200-94147600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:94146200-94147600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:94146200-94147600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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