Variant report

Variant	rs6998031
Chromosome Location	chr8:131292131-131292132
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131276972..131278899-chr8:131290636..131293294,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16904265	0.91[EUR][1000 genomes]
rs16904266	0.91[EUR][1000 genomes]
rs55637017	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55642195	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55686856	0.91[EUR][1000 genomes]
rs55692599	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55705977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55724400	0.83[AMR][1000 genomes]
rs55758693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55759431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55821463	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55823176	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55848037	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55867508	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55871312	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891945	1.00[EUR][1000 genomes]
rs55961633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968438	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55979731	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56194038	0.85[AMR][1000 genomes]
rs56241132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285703	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56297697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56313701	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56347021	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56349599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984045	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs6993944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994242	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994477	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005271	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7462977	0.91[EUR][1000 genomes]
rs7815532	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836688	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
3	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:131282400-131314800	Weak transcription	Gastric	stomach
5	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:131285600-131292800	Enhancers	Brain Anterior Caudate	brain
7	chr8:131288000-131292800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:131288200-131292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:131288600-131292200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:131288800-131296200	Weak transcription	K562	blood
11	chr8:131288800-131296600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:131289000-131299600	Weak transcription	Pancreas	Pancrea
13	chr8:131289200-131293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:131289400-131292200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:131289400-131295200	Enhancers	NHDF-Ad	bronchial
16	chr8:131289400-131297000	Weak transcription	Fetal Lung	lung
17	chr8:131289400-131300000	Weak transcription	Fetal Brain Female	brain
18	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:131289600-131292200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:131289600-131292400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:131289600-131292400	Weak transcription	Brain Germinal Matrix	brain
23	chr8:131289600-131293400	Enhancers	NHLF	lung
24	chr8:131289600-131296800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:131289600-131296800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:131289600-131296800	Weak transcription	Fetal Stomach	stomach
27	chr8:131289600-131296800	Weak transcription	Right Atrium	heart
28	chr8:131289600-131296800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:131289600-131300200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:131289600-131300200	Weak transcription	Fetal Intestine Small	intestine
31	chr8:131289800-131293000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:131289800-131293200	Weak transcription	Hela-S3	cervix
33	chr8:131290000-131294000	Enhancers	HUVEC	blood vessel
34	chr8:131290200-131292200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:131290200-131292400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:131290200-131292400	Weak transcription	Brain Substantia Nigra	brain
37	chr8:131290200-131292400	Weak transcription	Fetal Heart	heart
38	chr8:131290200-131292400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:131290200-131292800	Enhancers	NH-A	brain
40	chr8:131290200-131299600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:131290400-131292400	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:131290400-131292600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:131290400-131292800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:131290400-131292800	Enhancers	HMEC	breast
48	chr8:131290400-131293000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:131290400-131293600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:131290600-131292200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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