Variant report

Variant	rs34239697
Chromosome Location	chr6:86175892-86175893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86159467..86161013-chr6:86173619..86175929,2	K562	blood:

Variant related genes	Relation type
ENSG00000135318	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13194512	0.91[EUR][1000 genomes]
rs13198956	0.91[EUR][1000 genomes]
rs13202606	1.00[EUR][1000 genomes]
rs16876340	0.91[EUR][1000 genomes]
rs16876385	0.91[EUR][1000 genomes]
rs1793	0.91[EUR][1000 genomes]
rs34898046	0.91[EUR][1000 genomes]
rs34936540	0.91[EUR][1000 genomes]
rs35367106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35694036	0.91[EUR][1000 genomes]
rs35988746	0.91[EUR][1000 genomes]
rs36088473	0.91[EUR][1000 genomes]
rs3734442	0.91[EUR][1000 genomes]
rs3900740	0.91[EUR][1000 genomes]
rs4707206	0.91[EUR][1000 genomes]
rs4707213	0.91[EUR][1000 genomes]
rs55648312	0.91[EUR][1000 genomes]
rs55810446	0.91[EUR][1000 genomes]
rs55924871	0.91[ASN][1000 genomes]
rs67493405	0.91[EUR][1000 genomes]
rs6906121	0.91[EUR][1000 genomes]
rs6909402	0.91[EUR][1000 genomes]
rs6909654	0.91[EUR][1000 genomes]
rs6915519	0.87[EUR][1000 genomes]
rs71570763	0.84[EUR][1000 genomes]
rs71570764	0.91[EUR][1000 genomes]
rs71570766	1.00[EUR][1000 genomes]
rs72903409	0.82[ASN][1000 genomes]
rs72903416	0.91[ASN][1000 genomes]
rs72903421	0.91[ASN][1000 genomes]
rs7738371	0.91[EUR][1000 genomes]
rs7740830	0.91[EUR][1000 genomes]
rs7742792	0.81[EUR][1000 genomes]
rs7771577	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86163200-86176600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:86167800-86176200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:86171800-86176800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:86171800-86185200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:86171800-86186000	Weak transcription	Fetal Stomach	stomach
6	chr6:86171800-86187600	Weak transcription	Colonic Mucosa	Colon
7	chr6:86172000-86179000	Weak transcription	Pancreas	Pancrea
8	chr6:86172200-86179800	Weak transcription	Left Ventricle	heart
9	chr6:86172200-86186000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:86172400-86176200	Enhancers	Primary T cells from cord blood	blood
11	chr6:86172400-86178000	Weak transcription	Aorta	Aorta
12	chr6:86172400-86192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:86173200-86176200	Enhancers	GM12878-XiMat	blood
14	chr6:86173400-86176000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:86174000-86176600	Enhancers	Placenta	Placenta
16	chr6:86174200-86176000	Enhancers	Esophagus	oesophagus
17	chr6:86174200-86176200	Weak transcription	Liver	Liver
18	chr6:86174200-86177000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:86174400-86176000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:86174400-86176000	Weak transcription	Gastric	stomach
21	chr6:86174400-86176200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:86174400-86176200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:86174600-86176000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:86174600-86176000	Enhancers	HMEC	breast
25	chr6:86174600-86176200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:86174600-86178600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:86174600-86180200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:86174800-86176000	Enhancers	NHDF-Ad	bronchial
29	chr6:86174800-86176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:86174800-86178000	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:86174800-86179800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:86174800-86180400	Weak transcription	Brain Anterior Caudate	brain
33	chr6:86175000-86176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:86175000-86176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:86175000-86176200	Enhancers	A549	lung
36	chr6:86175000-86180000	Genic enhancers	HSMM	muscle
37	chr6:86175200-86176400	Enhancers	HUVEC	blood vessel
38	chr6:86175200-86180000	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr6:86175400-86176000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr6:86175400-86176000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:86175400-86176000	Enhancers	Lung	lung
42	chr6:86175400-86176200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr6:86175400-86176200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:86175400-86176400	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:86175400-86180000	Genic enhancers	NHEK	skin
46	chr6:86175400-86180200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:86175400-86180200	Genic enhancers	NHLF	lung
48	chr6:86175600-86176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:86175600-86176200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:86175600-86176600	Enhancers	Hela-S3	cervix

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