Variant report

Variant	rs67903387
Chromosome Location	chr2:114643836-114643837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114643797-114645592	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
3	SP1	chr2:114643835-114644637	GM12878	blood:	n/a	n/a
4	PAX5	chr2:114643789-114644804	GM12878	blood:	n/a	n/a
5	PML	chr2:114643727-114645664	GM12878	blood:	n/a	chr2:114645560-114645568
6	FOXM1	chr2:114643755-114644897	GM12878	blood:	n/a	n/a
7	MTA3	chr2:114643802-114645334	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:114643797-114645529	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:114643821-114644616	U87	brain:	n/a	n/a
10	NFIC	chr2:114643735-114645192	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:114643815-114644616	U87	brain:	n/a	n/a
12	NFATC1	chr2:114643760-114645350	GM12878	blood:	n/a	n/a
13	NFIC	chr2:114643793-114644776	GM12878	blood:	n/a	n/a
14	CEBPB	chr2:114643791-114644760	GM12878	blood:	n/a	chr2:114644023-114644036
15	ATF2	chr2:114643801-114644970	GM12878	blood:	n/a	n/a
16	ATF2	chr2:114643803-114644803	GM12878	blood:	n/a	n/a
17	RUNX3	chr2:114643797-114645412	GM12878	blood:	n/a	n/a
18	POU2F2	chr2:114643794-114645341	GM12878	blood:	n/a	n/a
19	MTA3	chr2:114643705-114645642	GM12878	blood:	n/a	n/a
20	NFATC1	chr2:114643790-114645262	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:114641822..114644086-chr2:114712983..114714789,2	K562	blood:
2	chr2:114512907..114516219-chr2:114641764..114644786,3	K562	blood:
3	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
4	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
5	chr2:114633812..114636075-chr2:114642561..114644204,2	MCF-7	breast:
6	chr2:114637447..114639972-chr2:114643641..114645350,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10187984	0.90[EUR][1000 genomes]
rs1022411	0.81[EUR][1000 genomes]
rs11899899	0.81[EUR][1000 genomes]
rs12711789	0.81[EUR][1000 genomes]
rs12711791	0.81[EUR][1000 genomes]
rs12988574	0.83[EUR][1000 genomes]
rs12989186	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12992256	0.81[EUR][1000 genomes]
rs13000991	0.83[EUR][1000 genomes]
rs13001665	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13004463	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13006608	0.88[EUR][1000 genomes]
rs13007764	0.83[EUR][1000 genomes]
rs13007971	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13009390	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13011381	0.93[EUR][1000 genomes]
rs13020063	0.83[EUR][1000 genomes]
rs13021259	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13023889	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13024337	0.93[EUR][1000 genomes]
rs13031774	0.86[EUR][1000 genomes]
rs13031792	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13036249	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13397191	0.81[EUR][1000 genomes]
rs13414001	0.90[EUR][1000 genomes]
rs13425176	0.81[EUR][1000 genomes]
rs17040412	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17045321	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17045324	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17045956	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34011463	0.83[EUR][1000 genomes]
rs34084885	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34193182	0.93[EUR][1000 genomes]
rs34244501	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34267159	0.81[EUR][1000 genomes]
rs34278749	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34280871	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34308150	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34380051	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34446531	0.83[EUR][1000 genomes]
rs34496519	0.83[EUR][1000 genomes]
rs34574779	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34699644	0.83[EUR][1000 genomes]
rs34764202	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34767335	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34819185	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34868595	0.83[EUR][1000 genomes]
rs35047042	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35086061	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35131331	0.83[EUR][1000 genomes]
rs35147957	0.81[EUR][1000 genomes]
rs35308064	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35310217	0.81[EUR][1000 genomes]
rs35328354	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35363095	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35503998	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35821829	0.93[EUR][1000 genomes]
rs35881779	0.83[EUR][1000 genomes]
rs35921649	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs36040648	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs36079093	0.83[EUR][1000 genomes]
rs55688180	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs55923556	0.81[EUR][1000 genomes]
rs62169873	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62169876	0.93[EUR][1000 genomes]
rs62169884	0.88[EUR][1000 genomes]
rs62169886	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62169890	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62169928	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62169932	0.83[EUR][1000 genomes]
rs62169933	0.83[EUR][1000 genomes]
rs62171765	0.83[EUR][1000 genomes]
rs62171766	0.83[EUR][1000 genomes]
rs66541229	0.83[EUR][1000 genomes]
rs66563583	0.83[EUR][1000 genomes]
rs66720895	0.83[EUR][1000 genomes]
rs66801277	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6707751	0.81[EUR][1000 genomes]
rs6710288	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6710525	0.81[EUR][1000 genomes]
rs6713995	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6716919	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6718539	0.81[EUR][1000 genomes]
rs6730338	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6730373	0.88[EUR][1000 genomes]
rs67368963	0.81[EUR][1000 genomes]
rs6740522	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6757220	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72835421	0.81[EUR][1000 genomes]
rs7564594	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7599403	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7602149	0.90[EUR][1000 genomes]
rs7602644	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9308688	0.90[EUR][1000 genomes]
rs9677247	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9677951	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9678565	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9678689	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9679712	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9941605	0.81[EUR][1000 genomes]
rs9941668	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67903387	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
2	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
3	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:114634400-114644200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:114634600-114644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:114634600-114644000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:114634600-114644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:114634600-114644000	Weak transcription	Pancreas	Pancrea
9	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:114634800-114644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:114635000-114644200	Weak transcription	Esophagus	oesophagus
14	chr2:114635400-114646000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:114635600-114644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:114635600-114644400	Weak transcription	Fetal Brain Female	brain
17	chr2:114635600-114645800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:114635800-114644000	Weak transcription	Dnd41	blood
19	chr2:114636000-114644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:114636000-114644000	Weak transcription	Small Intestine	intestine
21	chr2:114636000-114644000	Weak transcription	HUVEC	blood vessel
22	chr2:114636200-114644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:114636600-114644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:114636800-114644200	Weak transcription	Left Ventricle	heart
25	chr2:114636800-114644600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:114636800-114645400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:114637000-114644000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:114637000-114644000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:114637000-114644000	Weak transcription	NHDF-Ad	bronchial
30	chr2:114637200-114644200	Weak transcription	Fetal Heart	heart
31	chr2:114637800-114645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:114638000-114644000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:114638000-114645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:114639000-114646600	Weak transcription	Ovary	ovary
35	chr2:114639800-114646800	Weak transcription	Gastric	stomach
36	chr2:114640000-114644000	Weak transcription	NHEK	skin
37	chr2:114640000-114644800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:114640200-114644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:114640200-114644000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:114640200-114644200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:114640800-114644200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:114641000-114644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:114641000-114644000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:114641000-114644000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:114641000-114644000	Weak transcription	Thymus	Thymus
46	chr2:114642200-114646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:114642200-114646600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:114642400-114645400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:114642400-114646000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:114642600-114644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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