Variant report

Variant	rs34737312
Chromosome Location	chr2:67628282-67628283
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	JUN	chr2:67627181-67628732	Hela-S3	cervix:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
2	POLR2A	chr2:67627025-67628588	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr2:67628102-67628772	SK-N-SH	brain:	n/a	chr2:67628454-67628463
4	FOSL2	chr2:67628183-67628740	SK-N-SH	brain:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
5	PBX3	chr2:67628156-67628647	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr2:67628190-67628620	SK-N-SH	brain:	n/a	n/a
7	JUND	chr2:67628110-67628643	SK-N-SH	brain:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
8	SP1	chr2:67628189-67628667	A549	lung:	n/a	n/a
9	MYC	chr2:67627879-67628347	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:67627117-67628704	MCF10A-Er-Src	breast:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461 chr2:67627479-67627490 chr2:67627170-67627179
11	FOS	chr2:67628119-67628650	MCF10A-Er-Src	breast:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
12	POLR2A	chr2:67627907-67628718	HUVEC	blood vessel:	n/a	n/a
13	FOSL2	chr2:67628191-67628628	MCF-7	breast:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
14	JUND	chr2:67628183-67628718	MCF-7	breast:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
15	FOSL2	chr2:67628225-67628603	A549	lung:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
16	FOS	chr2:67627026-67628673	MCF10A-Er-Src	breast:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461 chr2:67627479-67627490 chr2:67627170-67627179
17	FOSL2	chr2:67628228-67628592	MCF-7	breast:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
18	EP300	chr2:67627893-67628639	Hela-S3	cervix:	n/a	chr2:67628440-67628450 chr2:67628452-67628461
19	FOXM1	chr2:67627692-67628445	ECC-1	luminal epithelium:	n/a	n/a
20	JUN	chr2:67628133-67628419	K562	blood:	n/a	n/a
21	TCF7L2	chr2:67628223-67628567	Hela-S3	cervix:	n/a	chr2:67628453-67628462 chr2:67628452-67628461
22	FOS	chr2:67627998-67628980	HUVEC	blood vessel:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
23	NFIC	chr2:67627378-67628701	ECC-1	luminal epithelium:	n/a	n/a
24	JUND	chr2:67627232-67628670	Hela-S3	cervix:	n/a	chr2:67627479-67627490 chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
25	GATA3	chr2:67628098-67628668	SK-N-SH	brain:	n/a	chr2:67628454-67628463
26	JUND	chr2:67628269-67628632	HepG2	liver:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461
27	GATA3	chr2:67628038-67628744	A549	lung:	n/a	chr2:67628454-67628463
28	TEAD4	chr2:67628205-67628613	HepG2	liver:	n/a	n/a
29	FOSL2	chr2:67628071-67628706	A549	lung:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
30	EP300	chr2:67628116-67628687	A549	lung:	n/a	chr2:67628440-67628450 chr2:67628452-67628461
31	MAFK	chr2:67628200-67628606	Hela-S3	cervix:	n/a	n/a
32	JUN	chr2:67628271-67628614	HUVEC	blood vessel:	n/a	chr2:67628452-67628461 chr2:67628454-67628461
33	FOS	chr2:67627295-67628652	MCF10A-Er-Src	breast:	n/a	chr2:67628451-67628462 chr2:67628452-67628461 chr2:67628454-67628461 chr2:67627479-67627490

No.	Distal block	Cell Line	Cell type
1	chr2:67625121..67629368-chr2:67632495..67635938,4	K562	blood:
2	chr2:67625330..67628840-chr2:67664328..67668176,3	MCF-7	breast:
3	chr2:67623954..67625979-chr2:67626857..67628695,2	MCF-7	breast:
4	chr2:67624567..67629481-chr2:67631992..67635938,6	K562	blood:
5	chr2:67625560..67628357-chr2:68014133..68016829,2	K562	blood:
6	chr2:67622928..67625891-chr2:67626088..67629064,3	K562	blood:

Variant related genes	Relation type
ETAA1	TF binding region
ENSG00000143971	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10496153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1063571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12185591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12185702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12988210	0.82[AMR][1000 genomes]
rs12991090	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12996359	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13000557	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13004747	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13004765	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13009070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015319	0.82[AMR][1000 genomes]
rs13015349	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13016330	0.82[AMR][1000 genomes]
rs13017696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13018894	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13026513	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13030037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13030211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13034744	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13035051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13035754	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13036061	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1521051	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17544516	0.82[AMR][1000 genomes]
rs17544551	0.82[AMR][1000 genomes]
rs17545245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17545301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17545329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17603914	0.82[AMR][1000 genomes]
rs2171176	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34103917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34274370	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34281542	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34298852	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34418651	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34493710	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34547630	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34636997	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34920978	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34962808	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34997300	0.82[AMR][1000 genomes]
rs35002490	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35141978	0.82[AMR][1000 genomes]
rs35144434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35340993	0.82[AMR][1000 genomes]
rs35382600	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35503819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35570926	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35607813	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35610403	0.82[AMR][1000 genomes]
rs35686078	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35777125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36098430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4428006	0.88[EUR][1000 genomes]
rs62154898	0.82[AMR][1000 genomes]
rs62154948	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154949	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154950	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154951	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154952	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154958	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156688	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156693	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156696	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156698	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156756	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156757	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156758	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62158290	0.82[AMR][1000 genomes]
rs71411986	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71411987	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71411988	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585807	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67625000-67629000	Flanking Active TSS	HUVEC	blood vessel
2	chr2:67625200-67630600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:67625200-67633000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:67625200-67638200	Weak transcription	Left Ventricle	heart
5	chr2:67625400-67629200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:67625400-67629200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:67625400-67629400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:67625400-67629600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:67625400-67629600	Enhancers	Osteobl	bone
10	chr2:67625400-67630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:67625400-67630400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:67625400-67630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:67625400-67630600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:67625400-67631200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:67625400-67631200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:67625400-67633200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:67625400-67633800	Weak transcription	Brain Substantia Nigra	brain
18	chr2:67625400-67634400	Weak transcription	Ovary	ovary
19	chr2:67625400-67636000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:67625400-67639400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:67625400-67639400	Weak transcription	Psoas Muscle	Psoas
22	chr2:67625400-67639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:67625400-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:67625400-67640200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
28	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:67625600-67629000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:67625600-67629400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:67625600-67630000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:67625600-67630400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:67625600-67630600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:67625600-67632200	Weak transcription	Thymus	Thymus
35	chr2:67625600-67634600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:67625600-67638000	Weak transcription	Fetal Stomach	stomach
37	chr2:67625600-67638800	Weak transcription	Fetal Brain Female	brain
38	chr2:67625600-67639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:67625600-67639600	Weak transcription	Right Ventricle	heart
40	chr2:67625600-67639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:67625600-67641000	Weak transcription	Fetal Brain Male	brain
42	chr2:67625800-67628600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:67625800-67628800	Enhancers	NHEK	skin
44	chr2:67625800-67629400	Weak transcription	Placenta	Placenta
45	chr2:67625800-67630400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:67625800-67630600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:67626000-67628400	Weak transcription	Colonic Mucosa	Colon
48	chr2:67626000-67629400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:67626000-67630600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:67626000-67630600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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