Variant report

Variant	rs72847348
Chromosome Location	chr6:27801853-27801854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27801715-27802040	K562	blood:	n/a	n/a
2	BCLAF1	chr6:27801777-27802501	K562	blood:	n/a	n/a
3	POLR2A	chr6:27799933-27802491	K562	blood:	n/a	n/a
4	POLR2A	chr6:27796592-27807059	K562	blood:	n/a	n/a
5	POLR2A	chr6:27801798-27802512	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:27801716-27802014	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPD	chr6:27801719-27803386	K562	blood:	n/a	n/a
8	POLR2A	chr6:27799219-27808508	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26197729..26199239-chr6:27800252..27802919,2	K562	blood:
2	chr6:27801448..27804005-chr6:28640638..28642144,2	K562	blood:
3	chr6:27098188..27105257-chr6:27800590..27808222,20	K562	blood:
4	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
5	chr6:26102897..26105879-chr6:27799887..27802546,2	MCF-7	breast:
6	chr6:26158346..26160779-chr6:27801102..27802987,2	MCF-7	breast:
7	chr6:26104351..26106115-chr6:27801691..27803287,2	K562	blood:
8	chr6:27111071..27119431-chr6:27801399..27810552,22	K562	blood:
9	chr17:58130209..58132880-chr6:27800764..27802704,2	MCF-7	breast:
10	chr6:27801194..27803769-chr6:28077806..28080000,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2BN	TF binding region
HIST1H4K	TF binding region
ENSG00000197061	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17693877	0.82[EUR][1000 genomes]
rs34144478	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34957169	0.88[EUR][1000 genomes]
rs41269275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845896	0.86[EUR][1000 genomes]
rs72847322	0.86[EUR][1000 genomes]
rs72847323	0.86[EUR][1000 genomes]
rs72847329	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72847332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847370	0.93[EUR][1000 genomes]
rs72847377	0.95[EUR][1000 genomes]
rs72847379	0.91[EUR][1000 genomes]
rs72847381	0.86[EUR][1000 genomes]
rs72847383	0.91[EUR][1000 genomes]
rs72848752	0.82[EUR][1000 genomes]
rs72848753	0.84[EUR][1000 genomes]
rs72848754	0.88[EUR][1000 genomes]
rs72848755	0.88[EUR][1000 genomes]
rs72848760	0.91[EUR][1000 genomes]
rs72848763	0.91[EUR][1000 genomes]
rs72848766	0.91[EUR][1000 genomes]
rs72848767	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848769	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848770	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72848772	0.81[EUR][1000 genomes]
rs72848773	0.91[EUR][1000 genomes]
rs72848774	0.86[EUR][1000 genomes]
rs72848776	0.86[EUR][1000 genomes]
rs72848784	0.86[EUR][1000 genomes]
rs72848785	0.82[EUR][1000 genomes]
rs72848793	1.00[AFR][1000 genomes];0.82[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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27793400-27803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27799000-27804200	Weak transcription	Spleen	Spleen
3	chr6:27799000-27804400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:27799000-27804600	Weak transcription	Lung	lung
5	chr6:27799000-27804600	Weak transcription	Ovary	ovary
6	chr6:27799000-27804600	Weak transcription	Pancreas	Pancrea
7	chr6:27799200-27802200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:27799200-27802200	Weak transcription	A549	lung
9	chr6:27799200-27802800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:27799200-27802800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27799200-27803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:27799200-27804200	Weak transcription	Small Intestine	intestine
13	chr6:27799400-27804600	Weak transcription	Left Ventricle	heart
14	chr6:27799600-27802600	Weak transcription	Thymus	Thymus
15	chr6:27799600-27803800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:27799600-27803800	Weak transcription	Colonic Mucosa	Colon
17	chr6:27799600-27803800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:27799600-27803800	Weak transcription	Stomach Mucosa	stomach
19	chr6:27799600-27804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:27799600-27804000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:27799600-27804000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:27799600-27804000	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:27799600-27804000	Weak transcription	Right Atrium	heart
24	chr6:27799600-27804200	Weak transcription	Right Ventricle	heart
25	chr6:27799800-27802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:27799800-27802000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:27799800-27802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:27799800-27802600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:27799800-27802600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:27799800-27802600	Weak transcription	Fetal Kidney	kidney
31	chr6:27799800-27802600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:27799800-27802600	Weak transcription	NH-A	brain
33	chr6:27799800-27802800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:27799800-27802800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:27799800-27802800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:27799800-27802800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:27799800-27802800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:27799800-27802800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:27799800-27802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:27799800-27802800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:27799800-27802800	Weak transcription	Fetal Heart	heart
42	chr6:27799800-27802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:27799800-27802800	Enhancers	Dnd41	blood
44	chr6:27799800-27803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:27799800-27803000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:27799800-27803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:27799800-27803600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:27799800-27803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:27799800-27803800	Weak transcription	Fetal Brain Male	brain
50	chr6:27799800-27803800	Weak transcription	Monocytes-CD14+_RO01746	blood

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