Variant report

Variant	rs66868086
Chromosome Location	chr6:27865902-27865903
allele	A/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	BCLAF1	chr6:27856983-27867279	K562	blood:	n/a	chr6:27863647-27863660 chr6:27863652-27863661 chr6:27862695-27862704 chr6:27857910-27857919
2	POLR2A	chr6:27856821-27873085	K562	blood:	n/a	n/a
3	HEY1	chr6:27865372-27866251	K562	blood:	n/a	n/a
4	FOXA1	chr6:27865627-27866062	T-47D	breast:	n/a	n/a
5	POLR2A	chr6:27865300-27866561	K562	blood:	n/a	n/a
6	FOXA1	chr6:27865700-27865944	T-47D	breast:	n/a	n/a
7	POLR2A	chr6:27865376-27865971	H1-hESC	embryonic stem cell:	n/a	n/a
8	PML	chr6:27865304-27866232	K562	blood:	n/a	n/a
9	POLR2A	chr6:27856294-27871164	K562	blood:	n/a	n/a
10	POLR2A	chr6:27856914-27866947	K562	blood:	n/a	n/a
11	POLR2A	chr6:27865316-27866067	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr6:27865318-27866214	K562	blood:	n/a	n/a
13	NR2F2	chr6:27863889-27866015	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27518690..27520835-chr6:27865558..27867263,2	K562	blood:
2	chr13:92000008..92002125-chr6:27865373..27867459,2	K562	blood:
3	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
4	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:

Variant related genes	Relation type
HIST1H2AM	TF binding region
RNU7-26P	TF binding region
ENSG00000197903	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs13192965	0.83[EUR][1000 genomes]
rs13193295	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13193480	0.89[EUR][1000 genomes]
rs13193542	0.89[EUR][1000 genomes]
rs13194781	1.00[EUR][1000 genomes]
rs13195728	0.96[EUR][1000 genomes]
rs13199649	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13199772	1.00[EUR][1000 genomes]
rs13199906	1.00[EUR][1000 genomes]
rs13200214	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13202291	0.87[EUR][1000 genomes]
rs13202295	0.89[EUR][1000 genomes]
rs13212318	0.85[EUR][1000 genomes]
rs13212651	1.00[EUR][1000 genomes]
rs13216117	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13217620	0.83[EUR][1000 genomes]
rs13218875	0.91[EUR][1000 genomes]
rs175597	0.90[EUR][1000 genomes]
rs17695758	1.00[EUR][1000 genomes]
rs17749927	0.83[EUR][1000 genomes]
rs17750747	0.89[EUR][1000 genomes]
rs17751184	0.96[EUR][1000 genomes]
rs17763089	1.00[EUR][1000 genomes]
rs188015	0.81[EUR][1000 genomes]
rs200481	0.86[EUR][1000 genomes]
rs200482	0.85[EUR][1000 genomes]
rs200483	0.86[EUR][1000 genomes]
rs200485	0.86[EUR][1000 genomes]
rs200489	0.86[EUR][1000 genomes]
rs200490	0.85[EUR][1000 genomes]
rs200493	0.82[EUR][1000 genomes]
rs200497	0.85[EUR][1000 genomes]
rs200501	0.86[EUR][1000 genomes]
rs200948	0.90[EUR][1000 genomes]
rs200949	0.82[EUR][1000 genomes]
rs200950	0.90[EUR][1000 genomes]
rs200952	0.90[EUR][1000 genomes]
rs200953	0.88[EUR][1000 genomes]
rs200954	0.90[EUR][1000 genomes]
rs200977	0.90[EUR][1000 genomes]
rs200981	0.88[EUR][1000 genomes]
rs200983	0.88[EUR][1000 genomes]
rs200989	0.90[EUR][1000 genomes]
rs200990	0.88[EUR][1000 genomes]
rs200992	0.83[EUR][1000 genomes]
rs200995	0.90[EUR][1000 genomes]
rs200996	0.88[EUR][1000 genomes]
rs201002	0.88[EUR][1000 genomes]
rs2747054	0.86[EUR][1000 genomes]
rs28360499	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34064842	0.85[EUR][1000 genomes]
rs34194357	1.00[EUR][1000 genomes]
rs34295134	0.88[EUR][1000 genomes]
rs34409918	0.85[EUR][1000 genomes]
rs34432857	0.85[EUR][1000 genomes]
rs34706883	0.96[EUR][1000 genomes]
rs34718920	0.96[EUR][1000 genomes]
rs34788973	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35037868	0.89[EUR][1000 genomes]
rs35501037	0.89[EUR][1000 genomes]
rs35819751	1.00[EUR][1000 genomes]
rs36101351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36116761	1.00[EUR][1000 genomes]
rs370155	0.85[EUR][1000 genomes]
rs390764	0.86[EUR][1000 genomes]
rs401754	0.86[EUR][1000 genomes]
rs45509595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs483143	0.88[EUR][1000 genomes]
rs493161	0.90[EUR][1000 genomes]
rs557042	0.90[EUR][1000 genomes]
rs61742093	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67040724	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67101035	0.96[EUR][1000 genomes]
rs71537572	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71559050	0.96[EUR][1000 genomes]
rs71559054	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845070	0.83[EUR][1000 genomes]
rs72847313	0.89[EUR][1000 genomes]
rs9368531	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27863600-27866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:27863800-27870000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:27863800-27870000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:27863800-27870400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:27864000-27869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:27864000-27869400	Weak transcription	HMEC	breast
7	chr6:27864000-27869600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:27864000-27870000	Weak transcription	NHEK	skin
9	chr6:27864000-27870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:27864200-27867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:27864200-27867400	Transcr. at gene 5' and 3'	K562	blood
12	chr6:27864200-27870000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:27864200-27870400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:27864400-27869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:27864400-27870000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:27864400-27870000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:27864400-27870000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:27864400-27870000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:27864600-27867400	Enhancers	Hela-S3	cervix
20	chr6:27864600-27867800	Weak transcription	HepG2	liver
21	chr6:27864600-27869400	Weak transcription	A549	lung
22	chr6:27864600-27870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:27864600-27870000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:27864600-27870000	Weak transcription	Fetal Kidney	kidney
25	chr6:27864600-27870000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:27864800-27866000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:27864800-27869600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:27865000-27866400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:27865200-27866400	Enhancers	GM12878-XiMat	blood
30	chr6:27865200-27869200	Weak transcription	Dnd41	blood
31	chr6:27865600-27866000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:27865600-27866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:27865600-27867000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:27865800-27867200	Enhancers	Placenta	Placenta
35	chr6:27865800-27869400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:27865800-27870000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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