Variant report

Variant	rs73386608
Chromosome Location	chr6:27802999-27803000
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr6:27802632-27803249	K562	blood:	n/a	chr6:27802762-27802782
2	BCLAF1	chr6:27802551-27808286	K562	blood:	n/a	chr6:27803234-27803242
3	GATA1	chr6:27802351-27803706	PBDE	blood:	n/a	chr6:27802760-27802771 chr6:27802765-27802782 chr6:27802764-27802773
4	NR2F2	chr6:27802505-27803020	K562	blood:	n/a	n/a
5	POLR2A	chr6:27796592-27807059	K562	blood:	n/a	n/a
6	TAL1	chr6:27802586-27803267	K562	blood:	n/a	chr6:27802763-27802771 chr6:27802764-27802782
7	EP300	chr6:27802597-27803258	K562	blood:	n/a	chr6:27803114-27803122
8	POLR2A	chr6:27802587-27803278	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr6:27802604-27803186	K562	blood:	n/a	n/a
10	POLR2A	chr6:27802531-27803570	K562	blood:	n/a	n/a
11	SIN3AK20	chr6:27802555-27803013	K562	blood:	n/a	n/a
12	TEAD4	chr6:27802485-27803158	K562	blood:	n/a	n/a
13	POLR2A	chr6:27802160-27803915	K562	blood:	n/a	n/a
14	POLR2A	chr6:27802588-27803598	H1-hESC	embryonic stem cell:	n/a	n/a
15	NR2F2	chr6:27802409-27803058	K562	blood:	n/a	n/a
16	MYC	chr6:27802638-27803204	K562	blood:	n/a	n/a
17	POLR2A	chr6:27802590-27803221	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZMIZ1	chr6:27802630-27803204	K562	blood:	n/a	n/a
19	TRIM28	chr6:27802526-27803348	K562	blood:	n/a	n/a
20	JUN	chr6:27802646-27803140	K562	blood:	n/a	n/a
21	CEBPB	chr6:27802577-27803010	K562	blood:	n/a	n/a
22	IRF1	chr6:27802612-27803233	K562	blood:	n/a	n/a
23	CEBPD	chr6:27802104-27803082	K562	blood:	n/a	n/a
24	ARID3A	chr6:27802355-27803424	K562	blood:	n/a	n/a
25	GATA2	chr6:27802619-27803034	K562	blood:	n/a	chr6:27802760-27802771 chr6:27802765-27802782 chr6:27802764-27802773
26	CEBPD	chr6:27801719-27803386	K562	blood:	n/a	n/a
27	POLR2A	chr6:27802627-27803009	K562	blood:	n/a	n/a
28	PML	chr6:27802501-27803331	K562	blood:	n/a	n/a
29	STAT5A	chr6:27802560-27803128	K562	blood:	n/a	n/a
30	TBL1XR1	chr6:27802626-27803104	K562	blood:	n/a	n/a
31	POLR2A	chr6:27799219-27808508	K562	blood:	n/a	n/a
32	IRF1	chr6:27802645-27803058	K562	blood:	n/a	n/a
33	POLR2A	chr6:27802652-27803022	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr6:27802463-27803219	K562	blood:	n/a	n/a
35	REST	chr6:27802646-27803054	K562	blood:	n/a	n/a
36	PML	chr6:27802497-27803451	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26283488..26285487-chr6:27802901..27805712,2	MCF-7	breast:
2	chr6:27801448..27804005-chr6:28640638..28642144,2	K562	blood:
3	chr6:27098188..27105257-chr6:27800590..27808222,20	K562	blood:
4	chr6:26155042..26157923-chr6:27802063..27803564,2	MCF-7	breast:
5	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
6	chr6:26104351..26106115-chr6:27801691..27803287,2	K562	blood:
7	chr12:131486977..131489176-chr6:27802515..27804540,2	MCF-7	breast:
8	chr6:27599473..27601723-chr6:27802439..27805045,2	K562	blood:
9	chr6:27802664..27806163-chr6:28103303..28107418,3	K562	blood:
10	chr6:27802790..27806364-chr6:28301138..28304856,3	K562	blood:
11	chr6:27111071..27119431-chr6:27801399..27810552,22	K562	blood:
12	chr6:27113200..27117534-chr6:27802228..27806893,11	MCF-7	breast:
13	chr6:27801194..27803769-chr6:28077806..28080000,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2BN	TF binding region
HIST1H4K	TF binding region
ENSG00000269293	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000111452	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73383122	1.00[AMR][1000 genomes]
rs73383127	1.00[AMR][1000 genomes]
rs73385130	1.00[AMR][1000 genomes]
rs73386609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73386632	1.00[AMR][1000 genomes]
rs73387078	1.00[AMR][1000 genomes]
rs73387092	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27793400-27803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27799000-27804200	Weak transcription	Spleen	Spleen
3	chr6:27799000-27804400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:27799000-27804600	Weak transcription	Lung	lung
5	chr6:27799000-27804600	Weak transcription	Ovary	ovary
6	chr6:27799000-27804600	Weak transcription	Pancreas	Pancrea
7	chr6:27799200-27803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:27799200-27804200	Weak transcription	Small Intestine	intestine
9	chr6:27799400-27804600	Weak transcription	Left Ventricle	heart
10	chr6:27799600-27803800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:27799600-27803800	Weak transcription	Colonic Mucosa	Colon
12	chr6:27799600-27803800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:27799600-27803800	Weak transcription	Stomach Mucosa	stomach
14	chr6:27799600-27804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:27799600-27804000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:27799600-27804000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:27799600-27804000	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:27799600-27804000	Weak transcription	Right Atrium	heart
19	chr6:27799600-27804200	Weak transcription	Right Ventricle	heart
20	chr6:27799800-27803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:27799800-27803000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:27799800-27803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:27799800-27803600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:27799800-27803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:27799800-27803800	Weak transcription	Fetal Brain Male	brain
26	chr6:27799800-27803800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:27799800-27803800	Weak transcription	NHDF-Ad	bronchial
28	chr6:27799800-27803800	Weak transcription	NHLF	lung
29	chr6:27799800-27803800	Weak transcription	Osteobl	bone
30	chr6:27799800-27804000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:27799800-27804000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:27799800-27804000	Weak transcription	Adipose Nuclei	Adipose
33	chr6:27799800-27804000	Weak transcription	Liver	Liver
34	chr6:27799800-27804000	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:27799800-27804000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:27799800-27804000	Weak transcription	HMEC	breast
37	chr6:27799800-27804000	Weak transcription	HSMMtube	muscle
38	chr6:27799800-27804200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:27799800-27804200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:27799800-27804200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:27799800-27804200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:27799800-27804400	Weak transcription	Placenta	Placenta
43	chr6:27800000-27803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:27800000-27803800	Weak transcription	HUVEC	blood vessel
45	chr6:27800000-27804000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:27800200-27803000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:27800200-27803800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:27800200-27803800	Weak transcription	NHEK	skin
49	chr6:27800200-27804200	Weak transcription	Fetal Stomach	stomach
50	chr6:27800400-27804000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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