Variant report

Variant	rs2664042
Chromosome Location	chr8:8706416-8706417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8702216..8704089-chr8:8704217..8706450,3	K562	blood:
2	chr8:8705274..8707873-chr8:8797138..8799236,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	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
11	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3367069	chr8:8706083-8706434	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8687600-8706600	Weak transcription	Lung	lung
2	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:8692600-8707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
5	chr8:8700000-8707400	Enhancers	Fetal Thymus	thymus
6	chr8:8700200-8707400	Enhancers	Fetal Kidney	kidney
7	chr8:8700200-8708000	Weak transcription	Spleen	Spleen
8	chr8:8700400-8706800	Weak transcription	Esophagus	oesophagus
9	chr8:8701000-8706600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:8701000-8707800	Enhancers	Fetal Intestine Large	intestine
11	chr8:8701400-8708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:8701600-8706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:8702400-8706800	Weak transcription	Liver	Liver
16	chr8:8702400-8706800	Weak transcription	Pancreas	Pancrea
17	chr8:8702400-8708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:8702400-8708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:8702400-8708200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:8702400-8708400	Weak transcription	NH-A	brain
21	chr8:8702400-8709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:8702400-8713600	Weak transcription	Gastric	stomach
23	chr8:8702600-8707000	Enhancers	A549	lung
24	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
25	chr8:8703200-8709400	Weak transcription	Psoas Muscle	Psoas
26	chr8:8703600-8706800	Weak transcription	Left Ventricle	heart
27	chr8:8703600-8713600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:8704000-8707400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:8704200-8709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:8704400-8706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8704400-8708400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:8705000-8706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:8705000-8707600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:8705000-8708200	Weak transcription	HSMM	muscle
35	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:8705200-8707000	Enhancers	HepG2	liver
37	chr8:8705200-8707400	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:8705200-8709600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:8705400-8706600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:8705400-8706600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:8705400-8706600	Flanking Active TSS	GM12878-XiMat	blood
42	chr8:8705400-8707400	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:8705400-8707600	Enhancers	Fetal Lung	lung
44	chr8:8705600-8706600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:8705600-8708800	Enhancers	Primary B cells from cord blood	blood
46	chr8:8705800-8708000	Weak transcription	HSMMtube	muscle
47	chr8:8705800-8708400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:8705800-8708800	Weak transcription	Brain Anterior Caudate	brain
49	chr8:8705800-8709400	Weak transcription	Right Ventricle	heart
50	chr8:8705800-8713600	Weak transcription	Aorta	Aorta

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