Variant report

Variant	rs58684675
Chromosome Location	chr6:144659958-144659959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144646379..144648634-chr6:144659334..144661793,2	K562	blood:
2	chr6:144658220..144661109-chr6:144661857..144663367,2	K562	blood:
3	chr6:144652090..144653631-chr6:144659810..144661477,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1474627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56154144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58756941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60104486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61112175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6570622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941232	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.91[AFR][1000 genomes]
rs73591137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592834	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592848	0.87[AMR][1000 genomes]
rs7748561	0.87[AMR][1000 genomes]
rs7749006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:144648200-144661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
5	chr6:144649400-144660000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:144652000-144661000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
8	chr6:144653000-144661200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:144653400-144660000	Weak transcription	A549	lung
11	chr6:144653400-144661200	Weak transcription	Brain Anterior Caudate	brain
12	chr6:144653400-144662800	Weak transcription	Osteobl	bone
13	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:144653600-144661400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:144653600-144662000	Weak transcription	NHLF	lung
16	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:144655400-144662000	Weak transcription	HUVEC	blood vessel
18	chr6:144655800-144661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:144656000-144660000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:144656000-144661400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:144656000-144664200	Weak transcription	Fetal Kidney	kidney
22	chr6:144656000-144665200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:144656000-144665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:144656200-144660400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:144656200-144660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:144656600-144664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:144656800-144661400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:144657000-144660000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:144657000-144661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:144657000-144662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:144657200-144661200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:144657200-144664000	Enhancers	Primary B cells from cord blood	blood
36	chr6:144657200-144664800	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:144657200-144665200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:144657400-144660800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:144657400-144661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:144657400-144662600	Weak transcription	HSMM	muscle
41	chr6:144657400-144665000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:144657600-144660000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:144657600-144660000	Weak transcription	GM12878-XiMat	blood
44	chr6:144657600-144660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:144657600-144660200	Weak transcription	NHEK	skin
46	chr6:144657600-144661200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:144657600-144661200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:144657600-144662800	Weak transcription	Brain Substantia Nigra	brain
49	chr6:144657800-144666400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:144658200-144660000	Weak transcription	Primary hematopoietic stem cells	blood

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