Variant report

Variant	rs6989609
Chromosome Location	chr8:121465262-121465263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:121464485..121465396-chr8:121950947..121951935,3	MCF-7	breast:
2	chr8:121464677..121466235-chr8:121468149..121470713,2	K562	blood:
3	chr8:121455278..121461246-chr8:121461422..121467773,11	K562	blood:
4	chr8:121464677..121467183-chr8:121468149..121473568,5	K562	blood:
5	chr8:121462628..121464826-chr8:121465144..121467078,2	K562	blood:
6	chr8:121464599..121465793-chr8:121617159..121618618,14	MCF-7	breast:
7	chr8:121464608..121465642-chr8:121617640..121618545,4	MCF-7	breast:
8	chr8:121454131..121459873-chr8:121462933..121467773,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172167	Chromatin interaction
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11988416	1.00[ASN][1000 genomes]
rs16893923	1.00[ASN][1000 genomes]
rs4871071	1.00[ASN][1000 genomes]
rs6990426	1.00[ASN][1000 genomes]
rs7006428	1.00[ASN][1000 genomes]
rs7824721	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121465800	Weak transcription	Spleen	Spleen
2	chr8:121458000-121467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121458000-121468000	Weak transcription	Esophagus	oesophagus
4	chr8:121458000-121468200	Weak transcription	Gastric	stomach
5	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:121458000-121480800	Weak transcription	Lung	lung
7	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
8	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:121458200-121466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:121458200-121479600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
12	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
14	chr8:121458400-121470600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:121458400-121471000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:121458400-121474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:121458400-121474400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
24	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:121458400-121501000	Weak transcription	Ovary	ovary
28	chr8:121458600-121466200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:121458600-121466400	Weak transcription	HSMM	muscle
30	chr8:121458600-121467600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:121458600-121468200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:121458600-121468600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:121458600-121469400	Weak transcription	Fetal Thymus	thymus
34	chr8:121458600-121469800	Weak transcription	NH-A	brain
35	chr8:121458600-121480000	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:121458600-121480800	Weak transcription	Fetal Intestine Large	intestine
37	chr8:121458600-121482800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:121458600-121483400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
44	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
46	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:121458800-121473000	Weak transcription	NHDF-Ad	bronchial
49	chr8:121458800-121473800	Weak transcription	Osteobl	bone
50	chr8:121458800-121474200	Weak transcription	Fetal Lung	lung

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