Variant report

Variant	rs16883805
Chromosome Location	chr6:74226973-74226974
allele	A/C
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74225322..74227120-chr6:74304460..74305982,2	K562	blood:
3	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
4	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
5	chr11:8835559..8836309-chr6:74226294..74227037,2	Hela-S3	cervix:
6	chr6:74136453..74139092-chr6:74226309..74227871,2	K562	blood:
7	chr6:74225345..74228338-chr6:74268407..74270549,2	K562	blood:
8	chr6:74160323..74161865-chr6:74226774..74228460,2	MCF-7	breast:
9	chr6:74224731..74227421-chr6:74361806..74363965,4	MCF-7	breast:
10	chr6:74169658..74172596-chr6:74225769..74229058,3	MCF-7	breast:
11	chr6:74222886..74227431-chr6:74328724..74331054,7	K562	blood:
12	chr6:74209113..74211687-chr6:74224027..74227100,3	MCF-7	breast:
13	chr6:74225495..74228323-chr6:74275867..74278333,2	MCF-7	breast:
14	chr6:74171683..74173790-chr6:74225512..74227822,2	MCF-7	breast:
15	chr6:26157792..26158299-chr6:74226967..74227662,2	Hela-S3	cervix:
16	chr6:74225719..74228474-chr6:74264854..74267464,2	K562	blood:
17	chr6:74224257..74227085-chr6:74333037..74337394,5	K562	blood:
18	chr6:74222064..74227666-chr6:74315829..74323019,13	MCF-7	breast:
19	chr6:74225295..74227678-chr6:74405377..74406988,2	MCF-7	breast:
20	chr6:74207658..74210612-chr6:74224071..74227518,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MB21D1-3	chr6:74225475-74227579	NONHSAT113566

No data

Variant related genes	Relation type
ENSG00000135297	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000156535	Chromatin interaction
ENSG00000231652	Chromatin interaction
ENSG00000218459	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10223454	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16883930	1.00[TSI][hapmap]
rs2036040	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59796880	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453674	0.84[ASN][1000 genomes]
rs6453675	0.84[ASN][1000 genomes]
rs6902599	0.84[ASN][1000 genomes]
rs6917928	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs6921927	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761170	0.91[JPT][hapmap]
rs7763873	1.00[JPT][hapmap]
rs7768980	0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs903516	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs903517	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs9442912	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9442913	0.86[ASN][1000 genomes]
rs9442914	0.84[ASN][1000 genomes]
rs9442915	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs9442917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442920	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446909	0.84[ASN][1000 genomes]
rs9446914	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9446915	0.90[AMR][1000 genomes]
rs9446916	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9446918	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446920	0.86[AMR][1000 genomes];1.00[EUR][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:74214000-74228000	Weak transcription	Right Ventricle	heart
4	chr6:74224200-74228000	Strong transcription	Left Ventricle	heart
5	chr6:74224200-74228600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:74224200-74229000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr6:74224200-74229000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:74224200-74229200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr6:74224400-74227000	Strong transcription	Placenta	Placenta
10	chr6:74224400-74228400	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:74224400-74228400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr6:74224600-74227200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr6:74224600-74227200	Strong transcription	Lung	lung
14	chr6:74224600-74227200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr6:74224600-74227400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:74224600-74227800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:74224600-74228000	Genic enhancers	Colon Smooth Muscle	Colon
18	chr6:74224600-74228400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:74224600-74228400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:74224600-74229000	Genic enhancers	Primary B cells from cord blood	blood
21	chr6:74224600-74229000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:74224600-74230600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
23	chr6:74224800-74227200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:74224800-74228400	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr6:74224800-74229000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:74224800-74230600	Transcr. at gene 5' and 3'	A549	lung
27	chr6:74225000-74227000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:74225000-74227200	Genic enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:74225000-74227200	Transcr. at gene 5' and 3'	NHLF	lung
30	chr6:74225000-74228200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:74225000-74228400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:74225000-74228400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr6:74225000-74228400	Genic enhancers	Brain Anterior Caudate	brain
34	chr6:74225000-74228400	Genic enhancers	Brain Substantia Nigra	brain
35	chr6:74225000-74228400	Strong transcription	Esophagus	oesophagus
36	chr6:74225000-74228400	Genic enhancers	Rectal Smooth Muscle	rectum
37	chr6:74225000-74229000	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:74225000-74230000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:74225000-74230000	Transcr. at gene 5' and 3'	NH-A	brain
40	chr6:74225000-74231600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:74225200-74227200	Genic enhancers	Brain Angular Gyrus	brain
42	chr6:74225200-74227800	Weak transcription	Right Atrium	heart
43	chr6:74225200-74228400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:74225200-74228400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:74225400-74227000	Weak transcription	Colonic Mucosa	Colon
46	chr6:74225400-74227200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
47	chr6:74225400-74227200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:74225400-74227800	Strong transcription	Fetal Thymus	thymus
49	chr6:74225400-74228400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:74225400-74228400	Strong transcription	Brain Germinal Matrix	brain

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