Variant report

Variant	rs7744323
Chromosome Location	chr6:71106303-71106304
allele	C/T
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	chr6:71106244..71108454-chr6:71192464..71194084,2	K562	blood:
2	chr6:71045394..71046942-chr6:71104947..71106792,2	K562	blood:
3	chr5:137802964..137805627-chr6:71105095..71107209,2	K562	blood:
4	chr6:71105678..71107456-chr6:71275471..71277073,2	K562	blood:
5	chr6:71105574..71108512-chr6:71172016..71173800,2	K562	blood:
6	chr6:71104762..71107746-chr6:105401778..105404768,2	K562	blood:
7	chr6:71105643..71107747-chr6:71537324..71539912,2	K562	blood:
8	chr6:71104620..71107220-chr6:71165268..71168760,3	K562	blood:
9	chr6:71106235..71107779-chr6:71220771..71222736,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154079	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1884251	1.00[EUR][1000 genomes]
rs3846747	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3901019	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4413581	1.00[EUR][1000 genomes]
rs4532415	0.85[AMR][1000 genomes]
rs57937000	1.00[AMR][1000 genomes]
rs58853059	1.00[AMR][1000 genomes]
rs60203363	1.00[AMR][1000 genomes]
rs61210066	1.00[EUR][1000 genomes]
rs6926523	1.00[EUR][1000 genomes]
rs73472786	1.00[EUR][1000 genomes]
rs73472788	1.00[EUR][1000 genomes]
rs73746019	0.85[AMR][1000 genomes]
rs73746020	0.85[AMR][1000 genomes]
rs73746057	1.00[EUR][1000 genomes]
rs7450439	1.00[EUR][1000 genomes]
rs7454181	0.85[AMR][1000 genomes]
rs883707	1.00[EUR][1000 genomes]
rs9455103	1.00[EUR][1000 genomes]
rs9455187	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr6:71097600-71108000	Enhancers	Fetal Intestine Large	intestine
2	chr6:71099400-71108400	Enhancers	Fetal Intestine Small	intestine
3	chr6:71103600-71122400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:71104200-71107200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:71104200-71108000	Enhancers	Stomach Mucosa	stomach
6	chr6:71104400-71107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:71104400-71108200	Active TSS	K562	blood
8	chr6:71104800-71106400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:71104800-71107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:71104800-71107000	Weak transcription	Placenta	Placenta
11	chr6:71104800-71107000	Weak transcription	Pancreas	Pancrea
12	chr6:71104800-71107200	Weak transcription	Colonic Mucosa	Colon
13	chr6:71105000-71106400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:71105200-71106800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:71105600-71106800	Enhancers	NHEK	skin
16	chr6:71105600-71107200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:71105800-71106400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr6:71105800-71107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:71105800-71107200	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:71105800-71107200	Enhancers	HMEC	breast
21	chr6:71105800-71107400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:71106000-71107600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:71106000-71108000	Enhancers	HepG2	liver
24	chr6:71106000-71108600	Enhancers	Hela-S3	cervix
25	chr6:71106200-71106400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:71106200-71106400	Flanking Active TSS	A549	lung
27	chr6:71106200-71106400	Enhancers	GM12878-XiMat	blood
28	chr6:71106200-71107000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:71106200-71107400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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