Variant report

Variant	rs414624
Chromosome Location	chr6:75964688-75964689
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75952131..75953877-chr6:75964575..75966530,2	K562	blood:
2	chr6:75940573..75942162-chr6:75964484..75966992,2	K562	blood:
3	chr6:75958503..75962615-chr6:75963016..75967089,5	K562	blood:
4	chr6:75959263..75962233-chr6:75963016..75966485,4	K562	blood:
5	chr6:75963600..75966180-chr6:75967354..75969365,2	K562	blood:
6	chr6:75964472..75966148-chr6:75966930..75969432,2	MCF-7	breast:
7	chr6:75952010..75957701-chr6:75957886..75965537,16	MCF-7	breast:
8	chr6:75962314..75964868-chr6:75994799..75997539,2	K562	blood:
9	chr6:75964680..75966328-chr6:75967865..75970436,2	K562	blood:
10	chr6:75962508..75964736-chr6:75965298..75967012,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112695	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs117512	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1203213	0.87[EUR][1000 genomes]
rs147523	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs15616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886390	0.83[JPT][hapmap]
rs16886391	0.83[JPT][hapmap]
rs16886411	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs240367	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs240369	0.85[CEU][hapmap]
rs240374	1.00[JPT][hapmap]
rs240381	0.87[EUR][1000 genomes]
rs240382	1.00[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240383	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs240385	0.87[EUR][1000 genomes]
rs240386	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240389	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240393	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240396	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240398	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240400	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240401	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240402	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240403	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240404	0.87[EUR][1000 genomes]
rs240405	0.82[EUR][1000 genomes]
rs240409	0.82[EUR][1000 genomes]
rs240410	0.92[EUR][1000 genomes]
rs240423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240424	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240425	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs240429	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs240430	0.87[EUR][1000 genomes]
rs240431	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703710	0.81[JPT][hapmap]
rs2808191	0.81[JPT][hapmap]
rs2808196	0.81[JPT][hapmap]
rs2842457	0.81[JPT][hapmap]
rs2951933	0.81[JPT][hapmap]
rs2951953	0.81[JPT][hapmap]
rs2998376	0.81[JPT][hapmap]
rs3756794	0.87[ASN][1000 genomes]
rs3777512	0.81[ASN][1000 genomes]
rs381141	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs3822870	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs397039	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs418485	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs429746	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs448854	0.87[EUR][1000 genomes]
rs507912	0.85[CEU][hapmap]
rs638590	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs643707	0.82[EUR][1000 genomes]
rs654428	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs683943	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7741596	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][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	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv603764	chr6:75963751-76025603	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs414624	TMEM30A	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75953800-75978200	Weak transcription	Gastric	stomach
2	chr6:75953800-75982200	Weak transcription	Spleen	Spleen
3	chr6:75954000-75974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:75954200-75964800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:75954200-75965000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:75954200-75965200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:75954200-75966400	Weak transcription	Aorta	Aorta
8	chr6:75954200-75967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:75954200-75969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:75954200-75971600	Weak transcription	K562	blood
11	chr6:75954200-75973200	Weak transcription	Psoas Muscle	Psoas
12	chr6:75954200-75978000	Weak transcription	Pancreas	Pancrea
13	chr6:75954200-75978000	Weak transcription	Small Intestine	intestine
14	chr6:75954200-75978000	Weak transcription	Stomach Mucosa	stomach
15	chr6:75954200-75978200	Weak transcription	Esophagus	oesophagus
16	chr6:75954200-75978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:75954400-75965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:75954400-75965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:75954400-75965000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:75954400-75965000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:75954400-75965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:75954400-75965600	Weak transcription	Ovary	ovary
23	chr6:75954400-75967400	Weak transcription	Brain Angular Gyrus	brain
24	chr6:75954400-75968000	Weak transcription	NHEK	skin
25	chr6:75954400-75968600	Weak transcription	Fetal Brain Female	brain
26	chr6:75954400-75969000	Weak transcription	Colonic Mucosa	Colon
27	chr6:75954400-75972600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:75954400-75976800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:75954400-75977200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:75954400-75977600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:75954400-75978000	Weak transcription	Right Ventricle	heart
32	chr6:75954400-75978000	Weak transcription	Hela-S3	cervix
33	chr6:75954400-75986000	Weak transcription	Brain Germinal Matrix	brain
34	chr6:75954600-75964800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:75954600-75965600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:75954600-75968200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:75954600-75968200	Weak transcription	HMEC	breast
38	chr6:75954600-75968400	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:75954600-75971800	Weak transcription	Fetal Stomach	stomach
40	chr6:75954600-75982400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:75954800-75966200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:75954800-75967200	Weak transcription	HSMMtube	muscle
43	chr6:75954800-75969400	Weak transcription	HepG2	liver
44	chr6:75954800-75982200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:75954800-75988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:75955000-75972600	Weak transcription	NHLF	lung
47	chr6:75955200-75969800	Weak transcription	Fetal Intestine Small	intestine
48	chr6:75955600-75969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:75956600-75965000	Weak transcription	Brain Substantia Nigra	brain
50	chr6:75957400-75965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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