Variant report

Variant	rs6495274
Chromosome Location	chr15:78422769-78422770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:78422758-78424690	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:
2	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
3	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
4	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
5	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
6	chr15:78422439..78424007-chr15:78432504..78434738,2	MCF-7	breast:
7	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

No data

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000103740	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000260988	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11857947	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1542101	0.86[ASN][1000 genomes]
rs16969520	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2007540	0.80[ASN][1000 genomes]
rs3784327	0.92[ASN][1000 genomes]
rs3784331	0.97[ASN][1000 genomes]
rs8040395	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
8	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
10	chr15:78420600-78423000	Weak transcription	Stomach Mucosa	stomach
11	chr15:78421000-78423000	Enhancers	K562	blood
12	chr15:78421200-78422800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:78421200-78422800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr15:78421200-78422800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:78421200-78422800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:78421200-78423000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:78421200-78423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:78421200-78423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:78421200-78423200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
21	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:78421400-78423200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr15:78421400-78423200	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:78421400-78423200	Enhancers	Fetal Muscle Leg	muscle
26	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus
27	chr15:78421400-78423400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr15:78421600-78422800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:78421600-78423000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr15:78421600-78423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:78421800-78422800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:78421800-78423000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:78421800-78423000	Weak transcription	HMEC	breast
34	chr15:78421800-78423200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:78421800-78423200	Enhancers	Fetal Heart	heart
36	chr15:78421800-78423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:78421800-78423400	Enhancers	Pancreas	Pancrea
38	chr15:78422000-78423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:78422000-78423200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:78422000-78423200	Enhancers	Colonic Mucosa	Colon
41	chr15:78422000-78423400	Weak transcription	Left Ventricle	heart
42	chr15:78422000-78423400	Weak transcription	Psoas Muscle	Psoas
43	chr15:78422000-78423600	Weak transcription	Lung	lung
44	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr15:78422200-78422800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:78422200-78423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:78422200-78423200	Weak transcription	Brain Angular Gyrus	brain
48	chr15:78422200-78423200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:78422200-78423200	Weak transcription	Right Ventricle	heart
50	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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