Variant report

Variant	rs6991323
Chromosome Location	chr8:124149944-124149945
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	chr8:124148204..124150384-chr8:124166803..124168730,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10101435	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10112138	1.00[ASN][1000 genomes]
rs10481150	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10505429	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs11781124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898012	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1713734	0.80[EUR][1000 genomes]
rs17314930	0.85[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35794820	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56673420	0.81[ASN][1000 genomes]
rs6470143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470144	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6991182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818440	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827419	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs7833077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834180	0.81[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1015490	chr8:124103255-124150990	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
2	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
6	chr8:124086600-124168800	Weak transcription	Lung	lung
7	chr8:124096200-124168800	Weak transcription	Liver	Liver
8	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124098400-124166600	Weak transcription	Gastric	stomach
10	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
12	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
13	chr8:124111400-124151800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
19	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
21	chr8:124114600-124152600	Weak transcription	Psoas Muscle	Psoas
22	chr8:124116200-124156600	Weak transcription	NHEK	skin
23	chr8:124116400-124168800	Weak transcription	Ovary	ovary
24	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:124128600-124157000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
28	chr8:124132400-124151800	Weak transcription	HSMMtube	muscle
29	chr8:124132800-124153200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:124133800-124161000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:124134000-124160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:124135600-124152000	Weak transcription	Placenta	Placenta
35	chr8:124137600-124164800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:124137600-124164800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
38	chr8:124138200-124152200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:124138200-124160000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:124138400-124154200	Weak transcription	NHLF	lung
41	chr8:124138400-124160000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:124138600-124150000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:124138600-124159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:124138600-124165800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:124138800-124150400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:124138800-124151600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:124138800-124160000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:124139000-124165600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:124139600-124152000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:124139600-124159400	Strong transcription	Fetal Thymus	thymus

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