Variant report

Variant	rs10018631
Chromosome Location	chr4:99955879-99955880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99955850-99955896	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99847573..99850219-chr4:99955793..99958132,2	K562	blood:
2	chr4:99955536..99957055-chr4:100010118..100011890,2	K562	blood:

Variant related genes	Relation type
METAP1	TF binding region
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10016708	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10032634	1.00[ASW][hapmap]
rs10034645	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10084896	0.94[LWK][hapmap];1.00[YRI][hapmap]
rs28419466	0.96[AFR][1000 genomes]
rs28550936	0.93[AFR][1000 genomes]
rs28575896	0.87[AFR][1000 genomes]
rs28591457	0.96[AFR][1000 genomes]
rs28594750	1.00[AFR][1000 genomes]
rs28676415	0.93[AFR][1000 genomes]
rs28792701	0.89[AFR][1000 genomes]
rs28800592	0.81[AFR][1000 genomes]
rs28894706	1.00[AFR][1000 genomes]
rs6832697	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6846251	0.93[AFR][1000 genomes]
rs7356160	0.90[YRI][hapmap]
rs7356519	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs7356525	0.90[YRI][hapmap]
rs9307232	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9884237	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9996051	0.90[YRI][hapmap]

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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10018631	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
4	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
5	chr4:99942800-99957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:99943000-99959200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:99943800-99966200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:99944200-99966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
12	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
13	chr4:99944400-99958400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:99944400-99958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:99944400-99958800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:99944400-99958800	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:99944400-99959400	Weak transcription	HSMM	muscle
18	chr4:99944400-99965000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:99944400-99966400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
21	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:99945600-99957000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
26	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
27	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
30	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
32	chr4:99946600-99964800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix
34	chr4:99947000-99957200	Weak transcription	Fetal Lung	lung
35	chr4:99947000-99964800	Weak transcription	Left Ventricle	heart
36	chr4:99947000-99969600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:99947000-99969800	Weak transcription	Ovary	ovary
38	chr4:99947000-99979000	Weak transcription	Gastric	stomach
39	chr4:99947000-99979200	Weak transcription	Pancreas	Pancrea
40	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
41	chr4:99949000-99964400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:99949000-99979000	Weak transcription	Small Intestine	intestine
43	chr4:99949200-99968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:99949600-99957000	Weak transcription	Fetal Intestine Small	intestine
45	chr4:99949600-99958800	Weak transcription	NHDF-Ad	bronchial
46	chr4:99949600-99969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:99949600-99973200	Weak transcription	Fetal Kidney	kidney
48	chr4:99950400-99959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:99950400-99959400	Weak transcription	Liver	Liver
50	chr4:99950800-99956600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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