Variant report

Variant	rs6994515
Chromosome Location	chr8:124099486-124099487
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124098071..124099602-chr8:124102319..124104778,2	MCF-7	breast:
2	chr8:124088643..124090533-chr8:124098657..124101419,2	K562	blood:
3	chr8:124099011..124101622-chr8:124164146..124166332,2	K562	blood:
4	chr8:124098570..124100865-chr8:124113494..124116382,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1713740	1.00[CHD][hapmap]
rs1713742	1.00[CHD][hapmap]
rs17316214	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1878776	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];1.00[EUR][1000 genomes]
rs6470136	1.00[CEU][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71514797	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
2	chr8:124086000-124108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124086000-124109600	Weak transcription	HMEC	breast
4	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:124086000-124112400	Weak transcription	NH-A	brain
6	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
7	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
8	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
13	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
15	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:124086200-124100000	Weak transcription	Placenta	Placenta
19	chr8:124086200-124115800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
21	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
24	chr8:124086400-124112000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
26	chr8:124086600-124168800	Weak transcription	Lung	lung
27	chr8:124086800-124114000	Weak transcription	Psoas Muscle	Psoas
28	chr8:124087000-124110200	Weak transcription	Brain Germinal Matrix	brain
29	chr8:124087200-124112400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
31	chr8:124088600-124115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:124089400-124100600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:124089400-124116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:124089600-124101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:124090000-124099800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:124090000-124100200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:124090200-124100200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:124092600-124100400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:124092600-124101800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:124092800-124100200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:124092800-124101600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:124094200-124111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:124094600-124100200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:124094800-124100400	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:124095200-124107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:124095600-124111600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:124095600-124118000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:124095800-124142800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:124096000-124102000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:124096200-124100200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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