Variant report

Variant	rs13362729
Chromosome Location	chr6:101327906-101327907
allele	C/T
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	ZNF143	chr6:101327830-101328030	GM12878	blood:	n/a	n/a
2	CHD1	chr6:101327624-101330167	IMR90	lung:	n/a	chr6:101329312-101329322
3	IRF1	chr6:101327843-101327950	K562	blood:	n/a	n/a
4	HCFC1	chr6:101327729-101330325	Hela-S3	cervix:	n/a	n/a
5	ZNF263	chr6:101327424-101329771	HEK293-T-REx	kidney:	n/a	n/a
6	CEBPB	chr6:101327841-101329278	K562	blood:	n/a	chr6:101328477-101328488 chr6:101328477-101328490 chr6:101328449-101328460 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328477-101328490
7	POLR2A	chr6:101327744-101330641	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
2	chr6:101326042..101328536-chr6:101641903..101644507,2	K562	blood:
3	chr6:101321574..101324468-chr6:101327088..101328680,2	MCF-7	breast:
4	chr6:101326886..101330925-chr6:101337161..101339877,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260000	TF binding region
ENSG00000164465	Chromatin interaction
ENSG00000270987	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13437407	1.00[AFR][1000 genomes]
rs9485414	1.00[AFR][1000 genomes]
rs9485418	1.00[AFR][1000 genomes]
rs9485420	1.00[AFR][1000 genomes]
rs9498402	1.00[AFR][1000 genomes]
rs9498403	1.00[AFR][1000 genomes]
rs9498407	1.00[AFR][1000 genomes]
rs9498412	1.00[AFR][1000 genomes]
rs9498413	1.00[AFR][1000 genomes]
rs9498415	1.00[AFR][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	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101294600-101328600	Weak transcription	Spleen	Spleen
2	chr6:101297000-101328200	Weak transcription	Ovary	ovary
3	chr6:101300200-101328400	Weak transcription	Esophagus	oesophagus
4	chr6:101300200-101328400	Weak transcription	Lung	lung
5	chr6:101311800-101328200	Weak transcription	Aorta	Aorta
6	chr6:101311800-101328400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:101311800-101328400	Weak transcription	Left Ventricle	heart
8	chr6:101319600-101328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:101320800-101328200	Weak transcription	Fetal Stomach	stomach
10	chr6:101322000-101328200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:101325400-101328200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:101325600-101328200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:101325600-101328200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:101325600-101328200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:101325600-101328200	Enhancers	Colon Smooth Muscle	Colon
16	chr6:101325600-101328400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:101325800-101328000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:101325800-101328200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:101325800-101328200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:101326000-101328200	Weak transcription	Brain Substantia Nigra	brain
21	chr6:101326200-101328000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:101326200-101328000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr6:101326400-101328000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr6:101326400-101328000	Enhancers	Brain Anterior Caudate	brain
25	chr6:101326400-101328200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:101326400-101328200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:101326400-101328200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:101326400-101328400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:101326600-101328400	Enhancers	Fetal Heart	heart
30	chr6:101326600-101330200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:101326800-101328000	Enhancers	Primary T cells from cord blood	blood
32	chr6:101326800-101328200	Weak transcription	Psoas Muscle	Psoas
33	chr6:101326800-101328400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:101327000-101328000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:101327000-101328000	Enhancers	Brain Hippocampus Middle	brain
36	chr6:101327000-101328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:101327000-101328200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:101327000-101328200	Flanking Active TSS	NHEK	skin
39	chr6:101327000-101329800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:101327000-101330200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:101327200-101328000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:101327200-101328000	Enhancers	Liver	Liver
43	chr6:101327200-101328000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:101327200-101328200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:101327200-101328200	Enhancers	Adipose Nuclei	Adipose
46	chr6:101327200-101328200	Enhancers	Fetal Intestine Large	intestine
47	chr6:101327200-101328200	Enhancers	Fetal Intestine Small	intestine
48	chr6:101327200-101328200	Enhancers	Fetal Muscle Leg	muscle
49	chr6:101327200-101328200	Enhancers	Placenta	Placenta
50	chr6:101327200-101328400	Enhancers	Primary B cells from peripheral blood	blood

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