Variant report

Variant	rs13024337
Chromosome Location	chr2:114651234-114651235
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	CTCF	chr2:114651220-114651370	GM06990	blood:	n/a	n/a
2	POLR2A	chr2:114651130-114651576	GM12878	blood:	n/a	n/a
3	IRF1	chr2:114651196-114651548	K562	blood:	n/a	chr2:114651286-114651306 chr2:114651284-114651301
4	TBL1XR1	chr2:114651212-114651497	GM12878	blood:	n/a	n/a
5	ZNF384	chr2:114651102-114651344	GM12878	blood:	n/a	n/a
6	CUX1	chr2:114651229-114651312	GM12878	blood:	n/a	n/a
7	CTCF	chr2:114651176-114651362	K562	blood:	n/a	n/a
8	CTCF	chr2:114651062-114651402	GM12878	blood:	n/a	n/a
9	CTCF	chr2:114651185-114651296	K562	blood:	n/a	n/a
10	UBTF	chr2:114651202-114651346	K562	blood:	n/a	n/a
11	ZNF384	chr2:114651155-114651670	K562	blood:	n/a	n/a
12	POLR2A	chr2:114651038-114652623	GM12878	blood:	n/a	n/a
13	CTCF	chr2:114651160-114651310	GM06990	blood:	n/a	n/a
14	CTCF	chr2:114651191-114651285	GM10266	blood:	n/a	n/a
15	ARID3A	chr2:114651192-114651720	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114649589..114651914-chr2:114675375..114678075,2	MCF-7	breast:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114650237..114652032-chr2:114672762..114674303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270019	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10187984	0.97[EUR][1000 genomes]
rs10199075	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs1028246	1.00[CEU][hapmap]
rs11899899	0.88[EUR][1000 genomes]
rs12711789	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12711791	0.88[EUR][1000 genomes]
rs12988574	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12989186	1.00[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs13000991	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13001665	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs13004463	0.90[EUR][1000 genomes]
rs13006608	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13006901	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13007764	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13007971	1.00[EUR][1000 genomes]
rs13009390	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs13011381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13020063	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13021259	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs13023889	1.00[EUR][1000 genomes]
rs13031774	0.93[EUR][1000 genomes]
rs13031792	0.95[EUR][1000 genomes]
rs13036249	1.00[EUR][1000 genomes]
rs13397191	0.88[EUR][1000 genomes]
rs13414001	0.97[EUR][1000 genomes]
rs13425176	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17040412	1.00[EUR][1000 genomes]
rs17045321	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs17045324	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs17045956	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs28376055	0.80[EUR][1000 genomes]
rs34011463	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34084885	0.90[EUR][1000 genomes]
rs34193182	1.00[EUR][1000 genomes]
rs34244501	0.90[EUR][1000 genomes]
rs34267159	0.88[EUR][1000 genomes]
rs34278749	0.90[EUR][1000 genomes]
rs34280871	0.90[EUR][1000 genomes]
rs34308150	1.00[EUR][1000 genomes]
rs34380051	0.90[EUR][1000 genomes]
rs34446531	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34496519	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34574779	0.90[EUR][1000 genomes]
rs34699644	0.90[EUR][1000 genomes]
rs34764202	1.00[EUR][1000 genomes]
rs34767335	0.90[EUR][1000 genomes]
rs34819185	0.95[EUR][1000 genomes]
rs34859032	0.85[EUR][1000 genomes]
rs34868595	0.90[EUR][1000 genomes]
rs35024634	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35047042	0.90[EUR][1000 genomes]
rs35086061	0.87[EUR][1000 genomes]
rs35131331	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.83[EUR][1000 genomes]
rs35308064	1.00[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	1.00[EUR][1000 genomes]
rs35363095	0.97[EUR][1000 genomes]
rs35503998	0.90[EUR][1000 genomes]
rs35821829	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35881779	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35921649	1.00[EUR][1000 genomes]
rs36040648	0.95[EUR][1000 genomes]
rs36079093	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4848357	1.00[CEU][hapmap]
rs55688180	0.93[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169872	0.82[EUR][1000 genomes]
rs62169873	1.00[EUR][1000 genomes]
rs62169876	1.00[EUR][1000 genomes]
rs62169884	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62169886	0.90[EUR][1000 genomes]
rs62169890	0.90[EUR][1000 genomes]
rs62169928	0.90[EUR][1000 genomes]
rs62169932	0.90[EUR][1000 genomes]
rs62169933	0.90[EUR][1000 genomes]
rs62171765	0.90[EUR][1000 genomes]
rs62171766	0.90[EUR][1000 genomes]
rs6542176	1.00[CEU][hapmap]
rs66541229	0.90[EUR][1000 genomes]
rs66563583	0.90[EUR][1000 genomes]
rs66720895	0.90[EUR][1000 genomes]
rs66801277	1.00[EUR][1000 genomes]
rs6707751	0.88[EUR][1000 genomes]
rs6710288	0.90[EUR][1000 genomes]
rs6710525	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6713995	0.90[EUR][1000 genomes]
rs6716919	1.00[EUR][1000 genomes]
rs6718539	0.88[EUR][1000 genomes]
rs6730338	1.00[EUR][1000 genomes]
rs6730373	0.95[EUR][1000 genomes]
rs67368963	0.88[EUR][1000 genomes]
rs6740522	1.00[EUR][1000 genomes]
rs6743807	1.00[CEU][hapmap]
rs6757220	0.95[EUR][1000 genomes]
rs67903387	0.93[EUR][1000 genomes]
rs72835421	0.88[EUR][1000 genomes]
rs7564594	1.00[EUR][1000 genomes]
rs7599403	1.00[EUR][1000 genomes]
rs7602149	0.97[EUR][1000 genomes]
rs7602644	1.00[EUR][1000 genomes]
rs9308688	0.97[EUR][1000 genomes]
rs9677247	0.95[EUR][1000 genomes]
rs9677951	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs9678565	1.00[EUR][1000 genomes]
rs9678689	1.00[EUR][1000 genomes]
rs9679712	0.95[EUR][1000 genomes]
rs9941605	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9941668	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13024337	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:114648600-114651600	Weak transcription	Esophagus	oesophagus
3	chr2:114648600-114651600	Weak transcription	Spleen	Spleen
4	chr2:114648600-114657800	Weak transcription	Gastric	stomach
5	chr2:114648600-114667600	Weak transcription	Lung	lung
6	chr2:114648800-114651600	Weak transcription	Pancreas	Pancrea
7	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:114649000-114651800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:114649000-114652000	Weak transcription	Ovary	ovary
10	chr2:114649200-114651400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:114649200-114651400	Enhancers	Liver	Liver
12	chr2:114649200-114652000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:114649200-114652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:114649200-114653200	Enhancers	Brain Anterior Caudate	brain
15	chr2:114649200-114653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
18	chr2:114649400-114651600	Weak transcription	Colonic Mucosa	Colon
19	chr2:114649400-114652200	Enhancers	Brain Angular Gyrus	brain
20	chr2:114649400-114654000	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr2:114649400-114655200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:114649600-114652000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:114649800-114651400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:114649800-114652400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr2:114649800-114653800	Weak transcription	Fetal Stomach	stomach
27	chr2:114649800-114655600	Enhancers	Small Intestine	intestine
28	chr2:114650000-114651400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:114650000-114651800	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:114650000-114652000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:114650000-114652400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:114650000-114653000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:114650000-114653000	Weak transcription	Right Atrium	heart
34	chr2:114650000-114654400	Weak transcription	Fetal Intestine Small	intestine
35	chr2:114650000-114655600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:114650200-114651400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:114650200-114651400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:114650200-114651400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:114650200-114651400	Enhancers	Fetal Brain Female	brain
40	chr2:114650200-114651400	Weak transcription	Fetal Heart	heart
41	chr2:114650200-114651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:114650200-114651400	Enhancers	HepG2	liver
43	chr2:114650200-114651600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:114650200-114651600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:114650200-114651600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:114650200-114651600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:114650200-114651600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:114650200-114651600	Weak transcription	Left Ventricle	heart
49	chr2:114650200-114651600	Weak transcription	Psoas Muscle	Psoas
50	chr2:114650200-114651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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