Variant report

Variant	rs16868061
Chromosome Location	chr6:27778386-27778387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:0)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr6:27777594-27778515	GM12878	blood:	n/a	chr6:27777813-27777821
2	POLR2A	chr6:27777531-27779032	SK-N-MC	brain:	n/a	n/a
3	ATF2	chr6:27777534-27778837	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:27777494-27779246	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr6:27777603-27778902	Hela-S3	cervix:	n/a	n/a
6	IRF1	chr6:27777314-27778407	K562	blood:	n/a	chr6:27777814-27777828 chr6:27777651-27777665 chr6:27777810-27777824 chr6:27777814-27777824
7	TAF1	chr6:27777515-27778416	K562	blood:	n/a	n/a
8	CEBPB	chr6:27778283-27778504	K562	blood:	n/a	n/a
9	NFIC	chr6:27777623-27778944	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:27774575-27779531	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:27777619-27779456	GM19193	blood:	n/a	n/a
12	POLR2A	chr6:27777602-27779564	GM19099	blood:	n/a	n/a
13	KAT2A	chr6:27777589-27779018	GM12878	blood:	n/a	n/a
14	MAX	chr6:27777692-27778471	HepG2	liver:	n/a	n/a
15	WRNIP1	chr6:27777675-27778829	GM12878	blood:	n/a	n/a
16	SP1	chr6:27777395-27778818	HCT-116	colon:	n/a	chr6:27778704-27778713 chr6:27778703-27778712 chr6:27778703-27778712 chr6:27778702-27778714 chr6:27778702-27778714
17	MAX	chr6:27777546-27778619	HepG2	liver:	n/a	n/a
18	TAF1	chr6:27777595-27778403	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr6:27777556-27778954	A549	lung:	n/a	chr6:27777652-27777666 chr6:27777815-27777829
20	POLR2A	chr6:27777500-27779550	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:27777630-27779440	GM18526	blood:	n/a	n/a
22	TEAD4	chr6:27777506-27779219	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:27774382-27779662	K562	blood:	n/a	n/a
24	UBTF	chr6:27777312-27779277	K562	blood:	n/a	n/a
25	MAFK	chr6:27777581-27779412	Hela-S3	cervix:	n/a	chr6:27778902-27778917
26	POLR2A	chr6:27777506-27779171	PFSK-1	brain:	n/a	n/a
27	TAF7	chr6:27777623-27778936	K562	blood:	n/a	n/a
28	CREB1	chr6:27777576-27778440	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:27777524-27779571	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr6:27777495-27778577	HepG2	liver:	n/a	chr6:27777660-27777676
31	MYC	chr6:27777831-27778404	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB33	chr6:27777451-27779238	SK-N-SH	brain:	n/a	n/a
33	STAT5A	chr6:27777571-27778972	GM12878	blood:	n/a	chr6:27777813-27777824 chr6:27778700-27778712
34	SIN3AK20	chr6:27777542-27778478	HCT-116	colon:	n/a	n/a
35	POU2F2	chr6:27777647-27778710	GM12891	blood:	n/a	chr6:27778439-27778450 chr6:27778438-27778453 chr6:27778462-27778475
36	PML	chr6:27777518-27779022	MCF-7	breast:	n/a	chr6:27777813-27777821
37	CEBPB	chr6:27777834-27778549	IMR90	lung:	n/a	n/a
38	SIN3A	chr6:27777616-27778415	GM12878	blood:	n/a	n/a
39	RELA	chr6:27777635-27778906	GM18526	blood:	n/a	n/a
40	RELA	chr6:27777646-27779015	GM18505	blood:	n/a	n/a
41	ATF2	chr6:27778153-27778976	GM12878	blood:	n/a	n/a
42	MAX	chr6:27777663-27778678	MCF-7	breast:	n/a	n/a
43	RELA	chr6:27777628-27779000	GM18951	blood:	n/a	n/a
44	POLR2A	chr6:27777470-27779491	GM12878	blood:	n/a	n/a
45	NFIC	chr6:27777398-27778728	HepG2	liver:	n/a	n/a
46	BHLHE40	chr6:27777677-27778511	K562	blood:	n/a	n/a
47	POLR2A	chr6:27777639-27778884	IMR90	lung:	n/a	n/a
48	POLR2A	chr6:27776232-27779525	K562	blood:	n/a	n/a
49	TCF3	chr6:27777661-27778538	GM12878	blood:	n/a	n/a
50	BRCA1	chr6:27777492-27778876	Hela-S3	cervix:	n/a	n/a

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
2	chr12:120637307..120638899-chr6:27776878..27779705,2	K562	blood:
3	chr6:26283778..26286024-chr6:27778308..27780342,2	MCF-7	breast:
4	chr6:27613028..27615946-chr6:27777925..27779442,2	K562	blood:
5	chr20:39764903..39766643-chr6:27776181..27778714,2	MCF-7	breast:
6	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
7	chr2:38977199..38979855-chr6:27777911..27779523,2	MCF-7	breast:
8	chr21:36259510..36262029-chr6:27776779..27778671,2	K562	blood:
9	chr6:26183066..26187877-chr6:27774821..27779151,5	MCF-7	breast:
10	chr6:27112242..27117659-chr6:27770082..27780470,17	MCF-7	breast:
11	chr20:55842417..55844076-chr6:27778109..27779862,2	MCF-7	breast:
12	chr6:27776967..27779185-chr6:28109334..28112184,3	K562	blood:
13	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
14	chr6:27776463..27779000-chr6:28890031..28892525,2	MCF-7	breast:
15	chr6:26020721..26023023-chr6:27777113..27779197,2	MCF-7	breast:
16	chr6:26198826..26200652-chr6:27777401..27778996,2	K562	blood:
17	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
18	chr6:26033235..26035308-chr6:27778375..27781238,2	MCF-7	breast:
19	chr6:26246827..26249929-chr6:27775840..27778770,4	MCF-7	breast:
20	chr6:26021671..26023816-chr6:27777999..27780060,2	MCF-7	breast:
21	chr6:26239694..26242322-chr6:27777382..27779315,2	MCF-7	breast:
22	chr6:26272978..26274527-chr6:27776343..27778592,2	MCF-7	breast:
23	chr6:27775939..27778512-chr6:28103052..28104837,2	K562	blood:
24	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
25	chr6:26215420..26218815-chr6:27778137..27782519,4	MCF-7	breast:
26	chr6:26270251..26272974-chr6:27776913..27779571,3	MCF-7	breast:
27	chr6:27777716..27778440-chr9:19380063..19381058,3	Hela-S3	cervix:
28	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
29	chr12:56551653..56553251-chr6:27776259..27779166,2	MCF-7	breast:
30	chr1:155099451..155102336-chr6:27776687..27779634,2	MCF-7	breast:
31	chr12:108078956..108079735-chr6:27777742..27778450,2	NB4	blood:
32	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
33	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
34	chr17:56735461..56737934-chr6:27775933..27778557,3	MCF-7	breast:
35	chr3:9438340..9440609-chr6:27776519..27779236,2	K562	blood:
36	chr6:26025862..26028751-chr6:27778385..27781122,2	MCF-7	breast:
37	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
38	chr2:38603960..38604651-chr6:27777775..27778613,2	Hela-S3	cervix:
39	chr6:27775597..27780846-chr6:28300467..28304976,7	K562	blood:
40	chr17:57913518..57917266-chr6:27775743..27780414,5	MCF-7	breast:
41	chr6:26215396..26217408-chr6:27778332..27780053,2	MCF-7	breast:
42	chr6:26030987..26033911-chr6:27775550..27778920,4	K562	blood:
43	chr11:62622857..62623380-chr6:27777678..27778405,2	Hela-S3	cervix:
44	chr14:101053077..101054023-chr6:27777710..27778463,2	Hela-S3	cervix:
45	chr6:26157592..26159745-chr6:27777609..27780154,2	MCF-7	breast:
46	chr6:27127171..27129409-chr6:27778202..27780210,2	K562	blood:
47	chr6:27775362..27779371-chr6:28186093..28189957,4	K562	blood:
48	chr6:26054474..26058085-chr6:27777303..27780745,6	MCF-7	breast:
49	chr1:234745412..234745921-chr6:27777916..27778487,2	Hela-S3	cervix:
50	chr6:27778322..27779984-chr6:28071319..28073386,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2BM	TF binding region
HIST1H2BL	TF binding region
ENSG00000183092	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000119787	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000243479	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000130675	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000206671	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000124181	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000122779	Chromatin interaction
ENSG00000136045	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000124578	Chromatin interaction
ENSG00000218690	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16868094	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868154	1.00[ASN][1000 genomes]
rs17693963	1.00[ASN][1000 genomes]
rs6927093	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	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774200-27779200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27774200-27779200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27774200-27779400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:27774200-27779800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:27774200-27779800	Active TSS	Thymus	Thymus
6	chr6:27774200-27779800	Active TSS	A549	lung
7	chr6:27774400-27778400	Active TSS	Brain Germinal Matrix	brain
8	chr6:27774400-27778400	Active TSS	Fetal Intestine Large	intestine
9	chr6:27774400-27778800	Active TSS	Fetal Brain Female	brain
10	chr6:27774400-27779000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:27774400-27779200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:27774400-27779200	Active TSS	NHDF-Ad	bronchial
13	chr6:27774400-27780000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:27774400-27780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27774400-27780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:27774400-27780000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:27774400-27780200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:27774600-27779600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:27774800-27778400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:27774800-27778800	Active TSS	Fetal Intestine Small	intestine
22	chr6:27775000-27778400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:27775200-27778600	Active TSS	Hela-S3	cervix
24	chr6:27775200-27779000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:27775200-27779600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:27775400-27778400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:27775400-27778600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:27775400-27778600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:27775400-27779000	Active TSS	NHEK	skin
30	chr6:27775400-27779800	Active TSS	Fetal Thymus	thymus
31	chr6:27776200-27780000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:27776400-27779600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:27776800-27778400	Active TSS	Fetal Kidney	kidney
34	chr6:27776800-27778400	Active TSS	Fetal Stomach	stomach
35	chr6:27776800-27778800	Active TSS	GM12878-XiMat	blood
36	chr6:27776800-27779000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:27776800-27779200	Active TSS	NHLF	lung
38	chr6:27777400-27778400	Active TSS	Osteobl	bone
39	chr6:27777400-27779200	Flanking Active TSS	Liver	Liver
40	chr6:27777400-27779600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:27777600-27778400	Active TSS	Primary T cells from cord blood	blood
42	chr6:27777600-27778400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr6:27777600-27778600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr6:27777600-27778600	Active TSS	Fetal Lung	lung
45	chr6:27777600-27778600	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr6:27777600-27778800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr6:27777600-27778800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr6:27777600-27778800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:27777600-27778800	Active TSS	Colon Smooth Muscle	Colon
50	chr6:27777600-27778800	Active TSS	HSMMtube	muscle

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