Variant report

Variant	rs6730373
Chromosome Location	chr2:114651940-114651941
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	MYC	chr2:114651810-114652323	MCF10A-Er-Src	breast:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
2	POLR2A	chr2:114651895-114652334	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:114651820-114652312	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
4	FOSL1	chr2:114651768-114652388	HCT-116	colon:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
5	JUND	chr2:114651879-114652309	Hela-S3	cervix:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
6	FOSL2	chr2:114651865-114652401	SK-N-SH	brain:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
7	FOXA1	chr2:114651822-114652471	HepG2	liver:	n/a	n/a
8	MYBL2	chr2:114651683-114652546	HepG2	liver:	n/a	n/a
9	MYC	chr2:114651444-114652338	K562	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
10	KAP1	chr2:114651765-114652441	U2OS	brain:	n/a	chr2:114652059-114652068
11	MAX	chr2:114651898-114652393	NB4	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
12	CEBPB	chr2:114651884-114652388	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:114651894-114652346	HepG2	liver:	n/a	n/a
14	JUND	chr2:114651922-114652289	HepG2	liver:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
15	MAFK	chr2:114651933-114652236	IMR90	lung:	n/a	chr2:114652059-114652069 chr2:114652059-114652068
16	FOSL2	chr2:114651857-114652229	A549	lung:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
17	POLR2A	chr2:114651863-114652378	U87	brain:	n/a	n/a
18	CEBPB	chr2:114651917-114652431	A549	lung:	n/a	n/a
19	MAFK	chr2:114651934-114652226	K562	blood:	n/a	chr2:114652059-114652069 chr2:114652059-114652068
20	EP300	chr2:114651895-114652333	Hela-S3	cervix:	n/a	chr2:114652060-114652069
21	STAT3	chr2:114651927-114652311	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
22	CEBPB	chr2:114651907-114652491	Hela-S3	cervix:	n/a	n/a
23	MAFF	chr2:114651911-114652248	K562	blood:	n/a	n/a
24	SP1	chr2:114651772-114652412	A549	lung:	n/a	n/a
25	EP300	chr2:114651807-114652489	HepG2	liver:	n/a	chr2:114652060-114652069
26	JUND	chr2:114651878-114652452	K562	blood:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
27	HDAC2	chr2:114651763-114652412	HepG2	liver:	n/a	n/a
28	STAT3	chr2:114651924-114652295	Hela-S3	cervix:	n/a	chr2:114652161-114652169 chr2:114652060-114652069 chr2:114652061-114652070
29	RXRA	chr2:114651786-114652356	HepG2	liver:	n/a	chr2:114652060-114652069
30	POLR2A	chr2:114651336-114652545	GM12878	blood:	n/a	n/a
31	TCF7L2	chr2:114651832-114652256	Hela-S3	cervix:	n/a	chr2:114652060-114652069
32	CEBPB	chr2:114651935-114652349	K562	blood:	n/a	n/a
33	TCF12	chr2:114651803-114652483	A549	lung:	n/a	n/a
34	POLR2A	chr2:114651866-114652538	U87	brain:	n/a	n/a
35	CEBPB	chr2:114651876-114652347	HCT-116	colon:	n/a	n/a
36	FOS	chr2:114651871-114652470	MCF10A-Er-Src	breast:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071 chr2:114652059-114652070
37	FOSL2	chr2:114651882-114652437	A549	lung:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
38	FOS	chr2:114651847-114652352	HUVEC	blood vessel:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071 chr2:114652059-114652070
39	JUND	chr2:114651764-114652364	HCT-116	colon:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
40	EP300	chr2:114651822-114652418	A549	lung:	n/a	chr2:114652060-114652069
41	JUND	chr2:114651882-114652477	SK-N-SH	brain:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
42	PBX3	chr2:114651900-114652374	SK-N-SH	brain:	n/a	n/a
43	MYC	chr2:114651909-114652441	NB4	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
44	FOS	chr2:114651815-114652332	MCF10A-Er-Src	breast:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071 chr2:114652059-114652070
45	SP1	chr2:114651919-114652423	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:114651862-114652492	HL-60	blood:	n/a	n/a
47	EP300	chr2:114651882-114652694	K562	blood:	n/a	chr2:114652060-114652069
48	JUN	chr2:114651758-114652748	K562	blood:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071 chr2:114652637-114652646
49	JUND	chr2:114651851-114652405	SK-N-SH	brain:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
50	MAX	chr2:114651902-114652421	Hela-S3	cervix:	n/a	chr2:114652061-114652070 chr2:114652060-114652069

No.	Distal block	Cell Line	Cell type
1	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
2	chr2:114651373..114654113-chr2:114668115..114670436,3	K562	blood:
3	chr2:114650237..114652032-chr2:114672762..114674303,2	MCF-7	breast:
4	chr2:114512332..114515034-chr2:114651411..114654635,3	MCF-7	breast:

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

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10187984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10199075	0.86[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs11899895	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11899899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12711789	0.88[EUR][1000 genomes]
rs12711791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12988574	0.85[EUR][1000 genomes]
rs12989186	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs13000991	0.85[EUR][1000 genomes]
rs13001665	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13004463	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13006608	0.90[EUR][1000 genomes]
rs13006901	0.81[EUR][1000 genomes]
rs13007764	0.85[EUR][1000 genomes]
rs13007971	0.95[EUR][1000 genomes]
rs13009390	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13011381	0.95[EUR][1000 genomes]
rs13020063	0.85[EUR][1000 genomes]
rs13021259	0.85[EUR][1000 genomes]
rs13023889	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13024337	0.95[EUR][1000 genomes]
rs13031774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13031792	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13036249	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13397191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13414001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13425176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17040412	0.95[EUR][1000 genomes]
rs17045321	0.95[EUR][1000 genomes]
rs17045324	0.95[EUR][1000 genomes]
rs17045956	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28376055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34011463	0.85[EUR][1000 genomes]
rs34084885	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34193182	0.95[EUR][1000 genomes]
rs34244501	0.85[EUR][1000 genomes]
rs34267159	0.83[EUR][1000 genomes]
rs34278749	0.85[EUR][1000 genomes]
rs34280871	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34308150	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34380051	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34446531	0.85[EUR][1000 genomes]
rs34496519	0.85[EUR][1000 genomes]
rs34574779	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34699644	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34764202	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34767335	0.85[EUR][1000 genomes]
rs34819185	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34859032	0.81[EUR][1000 genomes]
rs34868595	0.85[EUR][1000 genomes]
rs35024634	0.81[EUR][1000 genomes]
rs35047042	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35086061	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35131331	0.85[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35308064	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	0.95[EUR][1000 genomes]
rs35363095	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35503998	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35821829	0.95[EUR][1000 genomes]
rs35881779	0.85[EUR][1000 genomes]
rs35921649	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36040648	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36079093	0.85[EUR][1000 genomes]
rs55688180	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169873	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62169876	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62169884	0.90[EUR][1000 genomes]
rs62169886	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62169890	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62169928	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62169932	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62169933	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62171765	0.85[EUR][1000 genomes]
rs62171766	0.85[EUR][1000 genomes]
rs66541229	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66563583	0.85[EUR][1000 genomes]
rs66720895	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66801277	0.95[EUR][1000 genomes]
rs6707751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710288	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6710525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6713995	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6716919	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6718539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6730338	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67368963	0.83[EUR][1000 genomes]
rs6740522	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6757220	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67903387	0.88[EUR][1000 genomes]
rs72835421	0.83[EUR][1000 genomes]
rs7564594	0.95[EUR][1000 genomes]
rs7599403	0.95[EUR][1000 genomes]
rs7602149	0.98[EUR][1000 genomes]
rs7602644	0.95[EUR][1000 genomes]
rs9308688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9677247	0.90[EUR][1000 genomes]
rs9677951	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9678565	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9678689	0.95[EUR][1000 genomes]
rs9679712	0.90[EUR][1000 genomes]
rs9941605	0.88[EUR][1000 genomes]
rs9941668	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6730373	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	chr2:114648600-114657800	Weak transcription	Gastric	stomach
2	chr2:114648600-114667600	Weak transcription	Lung	lung
3	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:114649000-114652000	Weak transcription	Ovary	ovary
5	chr2:114649200-114652000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:114649200-114652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:114649200-114653200	Enhancers	Brain Anterior Caudate	brain
8	chr2:114649200-114653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
11	chr2:114649400-114652200	Enhancers	Brain Angular Gyrus	brain
12	chr2:114649400-114654000	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr2:114649400-114655200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:114649600-114652000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:114649800-114652400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr2:114649800-114653800	Weak transcription	Fetal Stomach	stomach
18	chr2:114649800-114655600	Enhancers	Small Intestine	intestine
19	chr2:114650000-114652000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:114650000-114652400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:114650000-114653000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:114650000-114653000	Weak transcription	Right Atrium	heart
23	chr2:114650000-114654400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:114650000-114655600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:114650200-114652000	Weak transcription	Thymus	Thymus
26	chr2:114650200-114652200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:114650200-114652200	Enhancers	Fetal Brain Male	brain
28	chr2:114650200-114652400	Enhancers	Brain Germinal Matrix	brain
29	chr2:114650200-114653400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:114650200-114653400	Strong transcription	Fetal Thymus	thymus
31	chr2:114650200-114653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:114650200-114654200	Genic enhancers	HSMM	muscle
33	chr2:114650200-114654600	Genic enhancers	Dnd41	blood
34	chr2:114650200-114658400	Enhancers	Adipose Nuclei	Adipose
35	chr2:114650200-114658400	Enhancers	Stomach Mucosa	stomach
36	chr2:114650200-114661000	Weak transcription	Right Ventricle	heart
37	chr2:114650400-114654400	Weak transcription	Fetal Lung	lung
38	chr2:114650400-114655400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:114650600-114652000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:114650600-114652000	Weak transcription	Fetal Kidney	kidney
41	chr2:114650600-114652000	Enhancers	HUVEC	blood vessel
42	chr2:114650600-114652200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:114650600-114653000	Enhancers	Hela-S3	cervix
44	chr2:114650600-114654200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:114650800-114652000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:114650800-114653000	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:114650800-114653800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:114651000-114652000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
49	chr2:114651000-114653000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:114651000-114653600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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