Variant report

Variant	rs10080749
Chromosome Location	chr6:34218165-34218166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:34215772-34218220	SK-N-SH	brain:	n/a	chr6:34217076-34217090

No.	Distal block	Cell Line	Cell type
1	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
2	chr6:34213633..34219276-chr6:34358105..34363296,16	MCF-7	breast:
3	chr6:34214133..34219385-chr6:34356600..34362053,16	K562	blood:
4	chr6:34215295..34220270-chr6:34358417..34361933,11	MCF-7	breast:
5	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:

Variant related genes	Relation type
C6orf1	TF binding region
ENSG00000270800	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000124614	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10807138	0.89[ASN][1000 genomes]
rs1150777	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150779	0.94[ASN][1000 genomes]
rs1150781	0.94[ASN][1000 genomes]
rs12530053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573905	0.85[ASN][1000 genomes]
rs2483211	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2797967	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28844869	0.83[ASN][1000 genomes]
rs3997803	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713763	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713764	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713765	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57026767	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59412811	0.97[ASN][1000 genomes]
rs6457769	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6899897	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6900030	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6900387	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6909732	0.99[ASN][1000 genomes]
rs6922699	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6922851	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6932690	0.99[ASN][1000 genomes]
rs73419191	0.83[ASN][1000 genomes]
rs73420913	0.85[ASN][1000 genomes]
rs7753987	0.99[ASN][1000 genomes]
rs7761883	0.83[ASN][1000 genomes]
rs7765484	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7768482	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs928482	0.99[ASN][1000 genomes]
rs9348936	0.88[ASN][1000 genomes]
rs9366846	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9394200	0.96[ASN][1000 genomes]
rs9394201	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9394202	0.88[ASN][1000 genomes]
rs9461968	0.88[ASN][1000 genomes]
rs9461969	0.88[ASN][1000 genomes]
rs9461975	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469750	0.88[ASN][1000 genomes]
rs9469757	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9469758	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv969388	chr6:34213490-34240324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34216600-34218200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:34217200-34218200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:34217400-34218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:34217400-34218200	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:34217400-34218200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:34217400-34218200	Enhancers	Fetal Thymus	thymus
7	chr6:34217400-34218200	Enhancers	Left Ventricle	heart
8	chr6:34217400-34218200	Enhancers	Lung	lung
9	chr6:34217400-34218200	Enhancers	Pancreas	Pancrea
10	chr6:34217400-34218200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:34217400-34218200	Enhancers	Spleen	Spleen
12	chr6:34217400-34218200	Enhancers	HSMMtube	muscle
13	chr6:34217600-34218200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:34217600-34218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:34217600-34218200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:34217600-34218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:34217600-34218200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:34217600-34218200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr6:34217600-34218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:34217600-34218200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:34217600-34218200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:34217600-34218200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:34217600-34218200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:34217600-34218200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:34217600-34218200	Enhancers	Colonic Mucosa	Colon
26	chr6:34217600-34218200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:34217600-34218200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:34217600-34218200	Enhancers	NHEK	skin
29	chr6:34217600-34218400	Enhancers	K562	blood
30	chr6:34217600-34218600	Enhancers	Fetal Muscle Leg	muscle
31	chr6:34217800-34218200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:34217800-34218200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:34217800-34218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:34217800-34218200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:34217800-34218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:34217800-34218200	Enhancers	Adipose Nuclei	Adipose
37	chr6:34217800-34218200	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:34217800-34218200	Enhancers	Placenta	Placenta
39	chr6:34217800-34218200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:34217800-34218200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:34217800-34218200	Enhancers	Stomach Mucosa	stomach
42	chr6:34217800-34218200	Enhancers	GM12878-XiMat	blood
43	chr6:34217800-34218400	Enhancers	Fetal Muscle Trunk	muscle
44	chr6:34217800-34219400	Enhancers	Primary B cells from cord blood	blood
45	chr6:34218000-34218200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:34218000-34218200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr6:34218000-34218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:34218000-34218200	Enhancers	Liver	Liver
49	chr6:34218000-34218200	Enhancers	Brain Angular Gyrus	brain
50	chr6:34218000-34218200	Enhancers	Brain Anterior Caudate	brain

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