Variant report

Variant	rs390547
Chromosome Location	chr7:107721121-107721122
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107712773..107718092-chr7:107719257..107721672,4	K562	blood:
2	chr7:107719530..107722382-chr7:107729681..107732039,2	MCF-7	breast:
3	chr7:107721046..107722775-chr7:107733495..107735609,2	K562	blood:
4	chr7:107719784..107721782-chr7:107727829..107731774,3	K562	blood:
5	chr7:107720738..107723216-chr7:107724069..107727011,3	K562	blood:
6	chr7:107714760..107717212-chr7:107718559..107721674,3	K562	blood:
7	chr7:107721046..107723696-chr7:107732715..107735609,4	K562	blood:
8	chr7:107699191..107701387-chr7:107720831..107722439,2	K562	blood:

No data

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs367538	0.81[CEU][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs376552	0.81[ASN][1000 genomes]
rs378641	0.81[CEU][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs380046	0.81[ASN][1000 genomes]
rs389486	0.80[ASN][1000 genomes]
rs397941	0.80[ASN][1000 genomes]
rs408643	0.80[ASN][1000 genomes]
rs423686	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs424978	0.81[CEU][hapmap];0.80[ASN][1000 genomes]
rs426812	0.81[ASN][1000 genomes]
rs430995	0.81[CEU][hapmap];0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs433534	0.81[CEU][hapmap];0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs437336	0.81[ASN][1000 genomes]
rs448742	0.81[CEU][hapmap];0.88[CHD][hapmap]
rs450722	0.80[ASN][1000 genomes]
rs93619	0.80[ASN][1000 genomes]
rs94604	0.81[CEU][hapmap]

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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs390547	LHFPL3	cis	parietal	SCAN
rs390547	DOCK4	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107700800-107733600	Weak transcription	Pancreas	Pancrea
2	chr7:107717000-107722000	Enhancers	Fetal Stomach	stomach
3	chr7:107717600-107722000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:107718200-107721800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:107718200-107722400	Enhancers	Small Intestine	intestine
6	chr7:107718400-107721200	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:107718400-107722200	Enhancers	Fetal Intestine Small	intestine
8	chr7:107718600-107721200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:107718600-107721200	Enhancers	Fetal Muscle Leg	muscle
10	chr7:107718600-107721200	Enhancers	NHDF-Ad	bronchial
11	chr7:107718600-107721200	Enhancers	Osteobl	bone
12	chr7:107718600-107721800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:107718600-107721800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:107718600-107722000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:107718600-107722000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:107718600-107722200	Enhancers	Fetal Intestine Large	intestine
17	chr7:107718800-107721400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:107718800-107721400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:107719000-107721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:107719200-107721800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:107719800-107722400	Enhancers	HepG2	liver
22	chr7:107720200-107721200	Flanking Active TSS	K562	blood
23	chr7:107720200-107721600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:107720200-107722200	Enhancers	NHLF	lung
25	chr7:107720400-107721200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:107720400-107721400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:107720400-107725000	Weak transcription	Ovary	ovary
28	chr7:107720600-107732000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:107720800-107721800	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:107720800-107724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:107721000-107721200	Enhancers	NH-A	brain
32	chr7:107721000-107721400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:107721000-107721400	Enhancers	HUVEC	blood vessel
34	chr7:107721000-107724200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:107721000-107734400	Weak transcription	Colon Smooth Muscle	Colon

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