Variant report

Variant	rs72847342
Chromosome Location	chr6:27789270-27789271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26156855..26158973-chr6:27786844..27789528,2	K562	blood:
2	chr6:27100048..27102341-chr6:27787787..27789362,2	MCF-7	breast:
3	chr6:27787686..27790389-chr6:28180656..28184025,3	MCF-7	breast:
4	chr6:27100056..27102330-chr6:27786147..27789279,4	K562	blood:
5	chr6:27112528..27118803-chr6:27787647..27794623,16	K562	blood:
6	chr1:45186112..45188778-chr6:27787083..27789758,2	K562	blood:
7	chr6:26215488..26220486-chr6:27788576..27794997,7	K562	blood:
8	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
9	chr17:56708388..56710390-chr6:27788670..27790301,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196787	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs34144478	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34957169	0.84[EUR][1000 genomes]
rs41269275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845896	0.81[EUR][1000 genomes]
rs72847322	0.81[EUR][1000 genomes]
rs72847323	0.81[EUR][1000 genomes]
rs72847329	1.00[AMR][1000 genomes]
rs72847332	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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847370	0.88[EUR][1000 genomes]
rs72847377	0.90[EUR][1000 genomes]
rs72847379	0.86[EUR][1000 genomes]
rs72847381	0.82[EUR][1000 genomes]
rs72847383	0.86[EUR][1000 genomes]
rs72848754	0.84[EUR][1000 genomes]
rs72848755	0.84[EUR][1000 genomes]
rs72848760	0.86[EUR][1000 genomes]
rs72848763	0.86[EUR][1000 genomes]
rs72848766	0.86[EUR][1000 genomes]
rs72848767	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72848769	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72848770	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72848773	0.86[EUR][1000 genomes]
rs72848774	0.81[EUR][1000 genomes]
rs72848776	0.81[EUR][1000 genomes]
rs72848784	0.81[EUR][1000 genomes]
rs72848793	1.00[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27783400-27791200	Weak transcription	Liver	Liver
2	chr6:27783400-27791800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27783600-27789400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:27783600-27791000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:27784000-27791000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:27784000-27791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:27784200-27791000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:27784400-27791000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:27785000-27790600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:27785200-27790800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:27785200-27791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:27785200-27791000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:27787000-27791000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:27787600-27791000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:27787800-27790800	Weak transcription	Brain Germinal Matrix	brain
16	chr6:27787800-27791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:27787800-27791200	Weak transcription	Fetal Thymus	thymus
18	chr6:27788000-27790600	Weak transcription	Hela-S3	cervix
19	chr6:27788000-27790800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:27788000-27791000	Weak transcription	HepG2	liver
21	chr6:27788000-27791200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:27788000-27791200	Weak transcription	GM12878-XiMat	blood
23	chr6:27788000-27791400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:27788000-27792000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:27788200-27792200	Weak transcription	A549	lung
26	chr6:27788400-27790600	Weak transcription	K562	blood
27	chr6:27788400-27791200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:27788800-27791000	Weak transcription	HUVEC	blood vessel
29	chr6:27789000-27791000	Enhancers	Dnd41	blood

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