Variant report

Variant	rs73386656
Chromosome Location	chr6:27862244-27862245
allele	G/T
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	GATA3	chr6:27862066-27862594	T-47D	breast:	n/a	n/a
2	CEBPB	chr6:27862009-27862526	K562	blood:	n/a	n/a
3	SIN3AK20	chr6:27861960-27863612	SK-N-SH	brain:	n/a	n/a
4	TBP	chr6:27862126-27862475	HepG2	liver:	n/a	n/a
5	SP1	chr6:27861967-27863663	A549	lung:	n/a	chr6:27863651-27863661 chr6:27862695-27862704 chr6:27863652-27863661 chr6:27862694-27862703 chr6:27863650-27863662 chr6:27863650-27863662 chr6:27863647-27863661 chr6:27862693-27862705 chr6:27862245-27862266 chr6:27863651-27863660
6	POLR2A	chr6:27859655-27863560	GM12891	blood:	n/a	n/a
7	JUND	chr6:27862108-27862560	A549	lung:	n/a	n/a
8	POLR2A	chr6:27859355-27863666	GM12878	blood:	n/a	n/a
9	ELF1	chr6:27862109-27862491	HepG2	liver:	n/a	n/a
10	TBP	chr6:27862118-27862481	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:27859666-27863543	GM19099	blood:	n/a	n/a
12	POLR2A	chr6:27857265-27863609	GM12891	blood:	n/a	n/a
13	E2F4	chr6:27862079-27862630	GM12878	blood:	n/a	chr6:27862385-27862396 chr6:27862385-27862396
14	FOS	chr6:27862098-27862474	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr6:27862185-27862571	GM12878	blood:	n/a	n/a
16	FOXA2	chr6:27862118-27862423	HepG2	liver:	n/a	n/a
17	FOXM1	chr6:27861960-27862669	MCF-7	breast:	n/a	n/a
18	HEY1	chr6:27859890-27863744	HepG2	liver:	n/a	chr6:27863039-27863048 chr6:27863641-27863656 chr6:27863037-27863046
19	POLR2A	chr6:27859865-27862623	SK-N-SH	brain:	n/a	n/a
20	YY1	chr6:27861926-27862613	GM12878	blood:	n/a	n/a
21	FOXM1	chr6:27861907-27862708	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr6:27859625-27863601	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:27862003-27862488	A549	lung:	n/a	n/a
24	E2F4	chr6:27860553-27863397	K562	blood:	n/a	chr6:27861750-27861757 chr6:27861002-27861013 chr6:27861746-27861758 chr6:27861750-27861757 chr6:27862385-27862396 chr6:27861005-27861014 chr6:27861006-27861013 chr6:27862385-27862396 chr6:27862698-27862708 chr6:27861003-27861018 chr6:27863039-27863048 chr6:27861749-27861758 chr6:27860885-27860897 chr6:27861006-27861013 chr6:27861750-27861757 chr6:27861006-27861013 chr6:27863037-27863046 chr6:27861003-27861017
25	POLR2A	chr6:27856971-27863786	K562	blood:	n/a	n/a
26	BCLAF1	chr6:27856983-27867279	K562	blood:	n/a	chr6:27863647-27863660 chr6:27863652-27863661 chr6:27862695-27862704 chr6:27857910-27857919
27	RAD21	chr6:27861984-27863879	SK-N-SH	brain:	n/a	chr6:27863459-27863468 chr6:27863453-27863472 chr6:27863457-27863471
28	POLR2A	chr6:27856821-27873085	K562	blood:	n/a	n/a
29	MAX	chr6:27862011-27862593	SK-N-SH	brain:	n/a	n/a
30	UBTF	chr6:27859640-27862669	K562	blood:	n/a	n/a
31	POLR2A	chr6:27859937-27863618	HCT-116	colon:	n/a	n/a
32	RUNX3	chr6:27860092-27862702	GM12878	blood:	n/a	chr6:27861890-27861905
33	REST	chr6:27862118-27862541	HepG2	liver:	n/a	n/a
34	FOS	chr6:27862117-27862392	MCF10A-Er-Src	breast:	n/a	n/a
35	SIN3AK20	chr6:27861941-27862582	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr6:27859760-27863052	GM12891	blood:	n/a	n/a
37	RFX5	chr6:27861551-27863924	SK-N-SH	brain:	n/a	chr6:27862617-27862626 chr6:27862612-27862628
38	HEY1	chr6:27859423-27863569	HepG2	liver:	n/a	chr6:27863039-27863048 chr6:27863037-27863046
39	MXI1	chr6:27862086-27862692	Hela-S3	cervix:	n/a	n/a
40	TAF7	chr6:27862028-27862647	K562	blood:	n/a	n/a
41	POLR2A	chr6:27859892-27863434	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr6:27861909-27863484	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:27859390-27863552	Hela-S3	cervix:	n/a	n/a
44	MAX	chr6:27860613-27863688	HepG2	liver:	n/a	n/a
45	REST	chr6:27861774-27862647	A549	lung:	n/a	n/a
46	POLR2A	chr6:27859622-27863765	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr6:27859924-27863623	HepG2	liver:	n/a	n/a
48	TAF1	chr6:27861954-27862498	SK-N-SH	brain:	n/a	n/a
49	TAF1	chr6:27862142-27862530	ECC-1	luminal epithelium:	n/a	n/a
50	NFYB	chr6:27862047-27862543	K562	blood:	n/a	chr6:27862256-27862268 chr6:27862252-27862267 chr6:27862252-27862267 chr6:27862253-27862267 chr6:27862254-27862267

No.	Distal block	Cell Line	Cell type
1	chr21:38738256..38741117-chr6:27860239..27862891,2	K562	blood:
2	chr6:26156531..26160482-chr6:27861579..27864503,3	K562	blood:
3	chr6:26195849..26201222-chr6:27858647..27864324,7	K562	blood:
4	chr6:27113175..27116376-chr6:27859162..27863702,10	MCF-7	breast:
5	chr6:27437660..27440966-chr6:27860702..27863841,3	K562	blood:
6	chr6:27861637..27864606-chr6:28102688..28104809,2	K562	blood:
7	chr1:205846140..205848793-chr6:27861296..27863465,2	MCF-7	breast:
8	chr6:26203030..26208239-chr6:27858574..27863151,12	MCF-7	breast:
9	chr6:27862073..27865049-chr6:28546272..28548839,2	K562	blood:
10	chr6:27861927..27864710-chr6:28460842..28463386,2	K562	blood:
11	chr17:59431671..59434197-chr6:27862037..27863742,2	MCF-7	breast:
12	chr6:27861212..27864644-chr6:28652943..28655557,3	K562	blood:
13	chr6:27859769..27862740-chr6:28829876..28831991,2	K562	blood:
14	chr6:27635575..27638134-chr6:27861679..27863418,2	K562	blood:
15	chr6:26054191..26059059-chr6:27859322..27865313,6	K562	blood:
16	chr6:27374845..27377266-chr6:27859975..27862570,2	K562	blood:
17	chr6:26032242..26033933-chr6:27858634..27862498,4	MCF-7	breast:
18	chr6:27857994..27864853-chr6:28300493..28305532,13	K562	blood:
19	chr6:26201927..26205994-chr6:27859683..27862837,3	K562	blood:
20	chr6:26214930..26218738-chr6:27859344..27862505,4	MCF-7	breast:
21	chr6:26021111..26023259-chr6:27860792..27862368,2	K562	blood:
22	chr14:21923226..21926054-chr6:27860528..27862245,2	MCF-7	breast:
23	chr6:27861348..27863953-chr6:28302754..28304929,2	MCF-7	breast:
24	chr12:110317736..110319625-chr6:27860528..27862747,2	MCF-7	breast:
25	chr6:27098129..27102708-chr6:27857691..27863156,15	MCF-7	breast:
26	chr6:27099230..27101350-chr6:27861915..27863725,3	MCF-7	breast:
27	chr6:26154955..26159424-chr6:27857638..27862895,13	MCF-7	breast:
28	chr6:26213820..26217915-chr6:27859360..27862633,4	K562	blood:
29	chr6:27860126..27862545-chr7:44834981..44837500,2	K562	blood:
30	chr1:16840031..16841006-chr6:27861946..27862788,2	Hela-S3	cervix:
31	chr6:26248843..26252508-chr6:27859565..27863258,4	K562	blood:
32	chr2:38510120..38512644-chr6:27860890..27862724,2	MCF-7	breast:
33	chr22:22894582..22896865-chr6:27862237..27863897,2	K562	blood:
34	chr6:27178603..27181453-chr6:27860902..27863574,2	K562	blood:
35	chr6:26122755..26124808-chr6:27861209..27863932,2	MCF-7	breast:
36	chr17:56736554..56739350-chr6:27860609..27863453,2	MCF-7	breast:
37	chr6:26217460..26219283-chr6:27861306..27863476,2	MCF-7	breast:
38	chr6:26018945..26024445-chr6:27858774..27864727,7	MCF-7	breast:
39	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
40	chr6:26197637..26200453-chr6:27859195..27862304,3	MCF-7	breast:
41	chr6:27861927..27864599-chr6:28186053..28188959,5	K562	blood:
42	chr6:26211090..26218818-chr6:27857037..27863909,13	K562	blood:
43	chr6:26195787..26199567-chr6:27858679..27862629,4	MCF-7	breast:
44	chr6:27094663..27097464-chr6:27862013..27864702,2	MCF-7	breast:
45	chr5:176910996..176913683-chr6:27860032..27862384,2	MCF-7	breast:
46	chr6:27861805..27863822-chr6:28010938..28012589,2	MCF-7	breast:
47	chr17:57922284..57924110-chr6:27861233..27863516,2	MCF-7	breast:
48	chr6:27862119..27863751-chr6:27985739..27988180,2	K562	blood:
49	chr17:8339763..8340351-chr6:27861950..27862882,2	Hela-S3	cervix:
50	chr6:26225279..26227416-chr6:27859804..27863883,3	MCF-7	breast:

Variant related genes	Relation type
HIST1H2AM	TF binding region
HIST1H3J	TF binding region
ENSG00000249094	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000237154	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000197459	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000253106	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000166579	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000157540	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000174572	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000213594	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000139433	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000168242	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11962485	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962868	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966528	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57414310	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61072813	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922530	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384352	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386660	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392701	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394721	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748537	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760283	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461421	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461422	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468253	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468257	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468261	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468262	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
7	nsv601209	chr6:27849676-27869321	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	194 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27857000-27863400	Active TSS	Thymus	Thymus
2	chr6:27857000-27863800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:27857200-27863800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27857200-27864000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:27857200-27864000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:27857200-27864000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:27857400-27864000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27857400-27864400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:27857400-27864400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:27857600-27864000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:27857800-27863600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:27857800-27863800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:27857800-27864000	Active TSS	A549	lung
14	chr6:27858000-27863600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27858000-27863600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:27858000-27863600	Active TSS	Fetal Lung	lung
17	chr6:27858000-27864000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:27858000-27864000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:27858200-27863600	Active TSS	Fetal Intestine Large	intestine
20	chr6:27858200-27863800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:27858200-27863800	Active TSS	Brain Germinal Matrix	brain
22	chr6:27858200-27864000	Active TSS	NHLF	lung
23	chr6:27858200-27864200	Active TSS	Fetal Kidney	kidney
24	chr6:27858400-27863600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:27858400-27863600	Active TSS	NH-A	brain
26	chr6:27858400-27863800	Active TSS	NHDF-Ad	bronchial
27	chr6:27858400-27864200	Active TSS	K562	blood
28	chr6:27858600-27862400	Active TSS	Colonic Mucosa	Colon
29	chr6:27858600-27863200	Active TSS	NHEK	skin
30	chr6:27858600-27863600	Active TSS	Dnd41	blood
31	chr6:27858600-27864000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:27859200-27863800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr6:27859600-27863600	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr6:27859600-27863800	Active TSS	GM12878-XiMat	blood
35	chr6:27859600-27864000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:27859600-27864200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:27859800-27863400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:27859800-27863400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:27859800-27863400	Active TSS	Small Intestine	intestine
40	chr6:27859800-27863600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:27859800-27864200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:27860000-27862400	Active TSS	Fetal Intestine Small	intestine
43	chr6:27860000-27863800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:27860000-27864000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr6:27860200-27863400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:27860200-27863400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr6:27860200-27863600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:27860200-27863600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:27860200-27863600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:27860200-27863600	Active TSS	HSMM	muscle

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