Variant report

Variant	rs6993268
Chromosome Location	chr8:119117808-119117809
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119112265..119114853-chr8:119117703..119122505,4	K562	blood:
2	chr8:119115865..119118200-chr8:119121886..119124636,2	MCF-7	breast:
3	chr8:119110587..119114764-chr8:119114883..119119035,6	MCF-7	breast:
4	chr8:119117691..119120187-chr8:119121459..119124230,3	K562	blood:
5	chr8:119116728..119118979-chr8:119119696..119121253,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10755915	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808492	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808494	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955855	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955856	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548404	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270513	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs1811528	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876791	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469722	0.81[ASN][1000 genomes]
rs6991511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008536	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010382	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011384	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014053	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818011	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835956	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7837824	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897828	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897830	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
3	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
5	chr8:119110000-119118200	Genic enhancers	Liver	Liver
6	chr8:119110600-119119600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:119110600-119119600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:119111400-119118600	Weak transcription	HSMMtube	muscle
9	chr8:119111600-119119800	Weak transcription	Brain Substantia Nigra	brain
10	chr8:119111800-119118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:119111800-119118400	Weak transcription	Fetal Brain Female	brain
12	chr8:119112000-119118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:119112200-119118000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:119112200-119118600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:119112200-119119600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:119112200-119120800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:119112400-119118000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr8:119112400-119119600	Weak transcription	Right Ventricle	heart
19	chr8:119112400-119119600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:119112400-119119800	Weak transcription	Primary B cells from cord blood	blood
21	chr8:119112400-119120600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:119112400-119120600	Weak transcription	Placenta	Placenta
23	chr8:119112400-119120600	Weak transcription	Thymus	Thymus
24	chr8:119112400-119120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:119112600-119118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:119112600-119118800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:119112600-119119800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:119112800-119118200	Weak transcription	GM12878-XiMat	blood
29	chr8:119113200-119119400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:119113200-119120800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:119113400-119120000	Enhancers	Stomach Mucosa	stomach
32	chr8:119113600-119119400	Weak transcription	Primary T cells from cord blood	blood
33	chr8:119114000-119118200	Weak transcription	Dnd41	blood
34	chr8:119114000-119118600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:119114000-119119800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:119114200-119119200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:119114200-119119600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:119114200-119119600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:119114800-119119400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:119114800-119119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:119115000-119118800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:119115600-119119400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr8:119115600-119120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:119115800-119118000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:119115800-119118200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:119115800-119118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:119115800-119118400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:119115800-119118600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:119116400-119118000	Strong transcription	Hela-S3	cervix
50	chr8:119116400-119118400	Strong transcription	HSMM	muscle

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