Variant report

Variant	rs3784331
Chromosome Location	chr15:78422205-78422206
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr15:78421978-78422345	K562	blood:	n/a	n/a
2	ZNF143	chr15:78421997-78422359	K562	blood:	n/a	n/a
3	CBX3	chr15:78421970-78422336	K562	blood:	n/a	n/a
4	RCOR1	chr15:78421965-78422302	K562	blood:	n/a	n/a
5	CBX3	chr15:78422006-78422320	K562	blood:	n/a	n/a
6	ZNF143	chr15:78422032-78422344	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 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	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11633292	0.81[JPT][hapmap]
rs11857947	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1542101	0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16969520	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2007540	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2289524	0.86[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2903700	0.81[ASN][1000 genomes]
rs3784327	0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs62009275	0.81[EUR][1000 genomes]
rs6495274	0.97[ASN][1000 genomes]
rs8040395	0.97[ASN][1000 genomes]
rs9783722	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:64 , 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	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
4	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
7	chr15:78413800-78422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:78413800-78422600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
11	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
13	chr15:78419600-78422400	Enhancers	A549	lung
14	chr15:78420600-78423000	Weak transcription	Stomach Mucosa	stomach
15	chr15:78421000-78423000	Enhancers	K562	blood
16	chr15:78421200-78422800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:78421200-78422800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr15:78421200-78422800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:78421200-78422800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:78421200-78423000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78421200-78423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:78421200-78423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:78421200-78423200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
25	chr15:78421400-78422400	Enhancers	Fetal Brain Female	brain
26	chr15:78421400-78422400	Enhancers	Right Atrium	heart
27	chr15:78421400-78422600	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:78421400-78423200	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr15:78421400-78423200	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:78421400-78423200	Enhancers	Fetal Muscle Leg	muscle
33	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus
34	chr15:78421400-78423400	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr15:78421600-78422800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:78421600-78423000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr15:78421600-78423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:78421800-78422400	Enhancers	Hela-S3	cervix
39	chr15:78421800-78422600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr15:78421800-78422800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:78421800-78423000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:78421800-78423000	Weak transcription	HMEC	breast
43	chr15:78421800-78423200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:78421800-78423200	Enhancers	Fetal Heart	heart
45	chr15:78421800-78423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:78421800-78423400	Enhancers	Pancreas	Pancrea
47	chr15:78422000-78422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:78422000-78422400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:78422000-78422400	Flanking Active TSS	Thymus	Thymus
50	chr15:78422000-78422400	Bivalent Enhancer	HepG2	liver

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