Variant report

Variant	rs7000799
Chromosome Location	chr8:8940613-8940614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
2	chr8:8939297..8940892-chr8:9008509..9010684,2	K562	blood:
3	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
4	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10093648	0.87[ASN][1000 genomes]
rs10105813	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs1045527	1.00[CHB][hapmap]
rs10503389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11785819	1.00[CHB][hapmap]
rs13274593	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17646349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17646897	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs17703328	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17703572	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17703591	0.91[EUR][1000 genomes]
rs34277204	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443356	0.87[ASN][1000 genomes]
rs34762233	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34968542	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35973329	0.87[ASN][1000 genomes]
rs36022127	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55686280	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6601283	1.00[ASN][1000 genomes]
rs6748	1.00[CHB][hapmap]
rs6983411	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985627	1.00[ASN][1000 genomes]
rs6986226	1.00[ASN][1000 genomes]
rs6990455	1.00[ASN][1000 genomes]
rs6992247	1.00[ASN][1000 genomes]
rs7007456	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009724	1.00[ASN][1000 genomes]
rs7011476	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017868	1.00[CHB][hapmap]
rs7018100	1.00[ASN][1000 genomes]
rs9650616	1.00[CHB][hapmap]
rs9650617	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9657508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
2	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
3	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
4	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:8937400-8943400	Enhancers	Hela-S3	cervix
6	chr8:8937800-8940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:8937800-8940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
9	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:8938400-8945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:8938400-8945200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:8938400-8945200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:8939400-8940800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:8940000-8945200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:8940000-8945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:8940000-8945200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:8940000-8945200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:8940000-8945400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:8940200-8940800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:8940200-8940800	Enhancers	K562	blood
22	chr8:8940200-8941000	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:8940200-8941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:8940200-8941000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:8940200-8941200	Weak transcription	Colonic Mucosa	Colon
26	chr8:8940200-8942000	Weak transcription	Psoas Muscle	Psoas
27	chr8:8940200-8942400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:8940200-8945200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:8940400-8941800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:8940400-8941800	Weak transcription	NH-A	brain
31	chr8:8940400-8942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:8940400-8942000	Weak transcription	NHEK	skin
33	chr8:8940400-8942000	Weak transcription	Osteobl	bone
34	chr8:8940400-8942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:8940400-8942200	Weak transcription	A549	lung
36	chr8:8940400-8942800	Enhancers	HUVEC	blood vessel
37	chr8:8940400-8945000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:8940400-8945000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:8940400-8945000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:8940400-8945200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:8940400-8945200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:8940400-8945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:8940400-8945200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:8940400-8945200	Weak transcription	Adipose Nuclei	Adipose
47	chr8:8940400-8945200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:8940400-8945200	Weak transcription	GM12878-XiMat	blood
49	chr8:8940400-8945200	Weak transcription	HMEC	breast
50	chr8:8940400-8945400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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