Variant report

Variant	rs430596
Chromosome Location	chr6:14882441-14882442
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14881041..14883237-chr8:90912853..90914805,2	MCF-7	breast:
2	chr17:41398882..41400413-chr6:14881916..14883436,2	MCF-7	breast:
3	chr6:14881565..14884528-chr6:15089043..15091614,2	MCF-7	breast:
4	chr17:41464584..41467211-chr6:14880436..14883416,4	K562	blood:
5	chr6:14879953..14882671-chr6:14890558..14892719,2	K562	blood:
6	chr6:14879278..14882861-chr6:15247379..15250654,3	MCF-7	breast:
7	chr17:41464584..41467211-chr6:14880436..14883416,3	K562	blood:
8	chr6:14870368..14872279-chr6:14881525..14883346,2	K562	blood:
9	chr6:14881770..14884048-chr6:15014899..15017508,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000235488	Chromatin interaction
ENSG00000234261	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16876035	1.00[MEX][hapmap]
rs412393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs419790	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9464716	1.00[MEX][hapmap]
rs9476643	1.00[MEX][hapmap]
rs9476649	1.00[MEX][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	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1017572	chr6:14830510-14906933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14871600-14886600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:14875000-14882600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:14875600-14882600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:14876800-14883600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:14877400-14882800	Weak transcription	Lung	lung
6	chr6:14877400-14889000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:14877600-14882600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:14877600-14882600	Weak transcription	Hela-S3	cervix
9	chr6:14877800-14883000	Weak transcription	Fetal Kidney	kidney
10	chr6:14878200-14882600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:14878200-14882600	Weak transcription	Fetal Heart	heart
12	chr6:14878200-14885600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:14878400-14882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:14878400-14882800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:14878400-14884200	Weak transcription	Fetal Thymus	thymus
16	chr6:14878600-14882600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:14878600-14882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:14878600-14883600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:14879200-14883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:14879200-14884400	Weak transcription	K562	blood
21	chr6:14879600-14882600	Enhancers	HUVEC	blood vessel
22	chr6:14880200-14882800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:14880200-14883400	Enhancers	Left Ventricle	heart
24	chr6:14880200-14884800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:14880200-14884800	Enhancers	Adipose Nuclei	Adipose
26	chr6:14880400-14884800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:14880400-14886400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:14880400-14886400	Enhancers	Fetal Stomach	stomach
29	chr6:14880600-14882600	Weak transcription	Small Intestine	intestine
30	chr6:14880600-14884200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:14880600-14884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:14880800-14882600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:14880800-14882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:14880800-14884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:14880800-14889000	Weak transcription	Spleen	Spleen
36	chr6:14881000-14884400	Enhancers	NH-A	brain
37	chr6:14881000-14885000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:14881200-14882600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:14881200-14882600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:14881200-14882800	Weak transcription	Fetal Lung	lung
41	chr6:14881200-14883000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:14881200-14883400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:14881200-14884600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:14881200-14884800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:14881400-14882600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:14881400-14882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:14881400-14883200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:14881400-14883200	Weak transcription	Brain Anterior Caudate	brain
49	chr6:14881400-14883200	Enhancers	HMEC	breast
50	chr6:14881400-14883600	Enhancers	Stomach Mucosa	stomach

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