Variant report

Variant	rs6927247
Chromosome Location	chr6:27111109-27111110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27110795-27111171	K562	blood:	n/a	n/a
2	POLR2A	chr6:27110505-27111629	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:27108716-27116550	K562	blood:	n/a	n/a
4	POLR2A	chr6:27108688-27117341	K562	blood:	n/a	n/a
5	POLR2A	chr6:27110440-27111650	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr6:27110683-27111570	K562	blood:	n/a	n/a
7	POLR2A	chr6:27108720-27117432	K562	blood:	n/a	n/a
8	HEY1	chr6:27109878-27111645	K562	blood:	n/a	n/a
9	STAT5A	chr6:27111033-27111690	K562	blood:	n/a	n/a
10	POLR2A	chr6:27110007-27111654	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:27108730-27116101	K562	blood:	n/a	n/a
12	EGR1	chr6:27110984-27111575	K562	blood:	n/a	n/a
13	POLR2A	chr6:27109874-27111251	K562	blood:	n/a	n/a
14	NR2F2	chr6:27110039-27116771	K562	blood:	n/a	n/a
15	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
16	POLR2A	chr6:27110778-27111112	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:27110536-27111675	K562	blood:	n/a	n/a
18	POLR2A	chr6:27106614-27117464	H1-hESC	embryonic stem cell:	n/a	n/a
19	PML	chr6:27108704-27116699	K562	blood:	n/a	chr6:27115356-27115364
20	TEAD4	chr6:27110058-27116578	K562	blood:	n/a	n/a
21	POLR2A	chr6:27110964-27111554	GM12878	blood:	n/a	n/a
22	CEBPD	chr6:27110989-27114383	K562	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:2290274..2293162-chr6:27111087..27113383,2	MCF-7	breast:
2	chr6:26121790..26128581-chr6:27110404..27116881,10	MCF-7	breast:
3	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
4	chr6:27110839..27112936-chr6:27796133..27797906,2	K562	blood:
5	chr6:26120836..26126141-chr6:27110374..27116911,13	K562	blood:
6	chr6:26029982..26034393-chr6:27104962..27111668,7	K562	blood:
7	chr6:27109947..27112442-chr6:27178276..27180108,2	K562	blood:
8	chr6:26214207..26218801-chr6:27106442..27111603,7	MCF-7	breast:
9	chr6:26103297..26105667-chr6:27110513..27113278,3	K562	blood:
10	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
11	chr6:26922784..26926269-chr6:27109047..27111436,3	K562	blood:
12	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
13	chr6:26283501..26289776-chr6:27108470..27116413,14	K562	blood:
14	chr6:26196234..26202173-chr6:27109710..27116918,20	K562	blood:
15	chr6:26054717..26057409-chr6:27111004..27117900,9	K562	blood:
16	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
17	chr2:71295346..71297246-chr6:27110028..27112731,2	K562	blood:
18	chr6:27111071..27119431-chr6:27801399..27810552,22	K562	blood:
19	chr6:27109893..27116877-chr6:27855936..27864238,12	MCF-7	breast:
20	chr6:27109665..27112293-chr6:36645698..36647510,2	K562	blood:
21	chr6:26280754..26288136-chr6:27109918..27116629,16	MCF-7	breast:
22	chr6:27109057..27111937-chr6:27732114..27735036,2	K562	blood:
23	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
24	chr6:27108913..27111186-chr6:27789836..27792842,3	K562	blood:
25	chr6:26155235..26159457-chr6:27110736..27118010,14	K562	blood:
26	chr6:26570400..26571983-chr6:27110015..27111671,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BJ-1	chr6:27110962-27113660	ENSG00000248252

No data

Variant related genes	Relation type
MIR3143	TF binding region
HIST1H2AH	TF binding region
ENSG00000197238	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000224843	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000183734	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000241549	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000124762	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000124357	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000174572	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000196866	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12055730	0.90[EUR][1000 genomes]
rs2393918	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4582379	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57375968	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6456769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6922098	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs760647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7745588	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348754	0.85[EUR][1000 genomes]
rs9348755	0.90[EUR][1000 genomes]
rs9366682	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9366683	0.90[EUR][1000 genomes]
rs9379963	0.90[EUR][1000 genomes]
rs9393788	0.90[EUR][1000 genomes]
rs9393792	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9467996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs994690	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27101800-27112800	Weak transcription	HSMMtube	muscle
2	chr6:27102200-27112600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:27107400-27112600	Weak transcription	Pancreas	Pancrea
4	chr6:27107600-27112400	Weak transcription	HMEC	breast
5	chr6:27107600-27112600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:27107800-27112400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:27107800-27112600	Weak transcription	Gastric	stomach
8	chr6:27107800-27113000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:27107800-27113200	Weak transcription	Lung	lung
10	chr6:27108000-27111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:27108000-27111200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:27108000-27111400	Weak transcription	Liver	Liver
13	chr6:27108000-27112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:27108000-27112000	Weak transcription	Left Ventricle	heart
15	chr6:27108000-27112000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:27108000-27112200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:27108000-27112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:27108000-27112400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:27108000-27112400	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:27108000-27112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:27108000-27112600	Weak transcription	Aorta	Aorta
22	chr6:27108000-27112600	Weak transcription	Colonic Mucosa	Colon
23	chr6:27108000-27112600	Weak transcription	Esophagus	oesophagus
24	chr6:27108000-27112600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:27108000-27112600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:27108000-27112600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:27108000-27112600	Weak transcription	Osteobl	bone
28	chr6:27108000-27112800	Weak transcription	NHDF-Ad	bronchial
29	chr6:27108000-27113200	Weak transcription	Right Ventricle	heart
30	chr6:27108200-27111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:27108200-27112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:27108200-27112000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:27108200-27112200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:27108200-27112200	Weak transcription	Placenta	Placenta
35	chr6:27108200-27112400	Weak transcription	NHEK	skin
36	chr6:27108200-27112600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:27108200-27112600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:27108200-27112600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:27108200-27112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:27108200-27112600	Weak transcription	Adipose Nuclei	Adipose
41	chr6:27108200-27112600	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:27108200-27112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:27108200-27112600	Weak transcription	Fetal Brain Male	brain
44	chr6:27108200-27112600	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:27108200-27112600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:27108200-27112600	Weak transcription	Right Atrium	heart
47	chr6:27108400-27112600	Weak transcription	NHLF	lung
48	chr6:27108400-27113000	Weak transcription	HUVEC	blood vessel
49	chr6:27108800-27114000	Transcr. at gene 5' and 3'	K562	blood
50	chr6:27109000-27112600	Weak transcription	Fetal Heart	heart

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