Variant report

Variant	rs6995743
Chromosome Location	chr8:100156391-100156392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100145698..100148364-chr8:100156045..100158193,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55852968	0.80[AMR][1000 genomes]
rs57234727	0.86[AFR][1000 genomes]
rs60420184	0.86[AFR][1000 genomes]
rs61051369	1.00[AMR][1000 genomes]
rs6997344	0.90[AFR][1000 genomes]
rs73699946	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73699949	0.82[AFR][1000 genomes]
rs73699950	0.82[AFR][1000 genomes]
rs73699966	0.84[AFR][1000 genomes]
rs73699970	0.94[AFR][1000 genomes]
rs7819569	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7844193	0.86[YRI][hapmap];0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv933781	chr8:100108619-100160324	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100099200-100160200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:100099600-100161000	Weak transcription	Spleen	Spleen
3	chr8:100100400-100161000	Weak transcription	Esophagus	oesophagus
4	chr8:100101800-100160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:100102200-100162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:100103400-100175600	Weak transcription	NHEK	skin
7	chr8:100103600-100160200	Weak transcription	A549	lung
8	chr8:100104000-100160200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:100104400-100160800	Weak transcription	HSMMtube	muscle
10	chr8:100104600-100160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:100105000-100162800	Weak transcription	NHLF	lung
12	chr8:100107000-100162400	Weak transcription	Fetal Kidney	kidney
13	chr8:100107200-100160800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
15	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
16	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:100114600-100161000	Weak transcription	HepG2	liver
18	chr8:100116400-100160200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:100121800-100160800	Weak transcription	Psoas Muscle	Psoas
20	chr8:100122000-100160600	Weak transcription	Right Ventricle	heart
21	chr8:100122000-100163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:100122000-100201200	Weak transcription	Gastric	stomach
23	chr8:100125800-100160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:100127000-100160400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:100127200-100162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:100127400-100160200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:100131000-100176000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:100131800-100161000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:100131800-100162600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:100131800-100197600	Weak transcription	Lung	lung
31	chr8:100133200-100163400	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:100133800-100160200	Weak transcription	Fetal Lung	lung
33	chr8:100133800-100160400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:100134000-100159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:100134000-100160000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:100134000-100160200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:100134000-100160200	Weak transcription	GM12878-XiMat	blood
38	chr8:100134000-100171200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:100134400-100158800	Weak transcription	Fetal Intestine Small	intestine
40	chr8:100134400-100160200	Weak transcription	Fetal Thymus	thymus
41	chr8:100134400-100160200	Weak transcription	Left Ventricle	heart
42	chr8:100134400-100160200	Weak transcription	Thymus	Thymus
43	chr8:100137400-100160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:100138200-100161000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:100143200-100166800	Weak transcription	HMEC	breast
46	chr8:100144200-100161000	Weak transcription	Pancreas	Pancrea
47	chr8:100144200-100163000	Weak transcription	Brain Substantia Nigra	brain
48	chr8:100145800-100160200	Weak transcription	Ovary	ovary
49	chr8:100146600-100162200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:100148000-100161800	Weak transcription	Brain Germinal Matrix	brain

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