Variant report

Variant	rs571820334
Chromosome Location	chr8:68039594-68039595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68039129..68041953-chr8:68044102..68045625,2	K562	blood:
2	chr8:68034598..68037205-chr8:68038455..68041133,2	MCF-7	breast:
3	chr8:68038512..68041443-chr8:68043392..68045199,2	MCF-7	breast:
4	chr8:68030814..68032510-chr8:68038981..68041972,2	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	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1795021	chr8:67995266-68068812	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
3	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
6	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
10	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:67993400-68044000	Weak transcription	Ovary	ovary
12	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
13	chr8:67994200-68044200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:68005800-68044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:68008000-68040000	Weak transcription	NHLF	lung
16	chr8:68008000-68045600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:68008200-68045400	Weak transcription	Fetal Brain Male	brain
19	chr8:68008400-68039600	Weak transcription	NH-A	brain
20	chr8:68008400-68044000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:68008600-68044200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:68008600-68044400	Weak transcription	Brain Germinal Matrix	brain
23	chr8:68008800-68045800	Weak transcription	Right Ventricle	heart
24	chr8:68017600-68044200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:68021000-68066800	Weak transcription	Lung	lung
26	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:68021200-68044200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:68021600-68046000	Weak transcription	HSMMtube	muscle
29	chr8:68021800-68048800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:68022000-68045800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:68022600-68050800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
33	chr8:68023000-68044000	Weak transcription	HepG2	liver
34	chr8:68023200-68044000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:68024200-68045800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:68024600-68044800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:68025400-68045800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:68025600-68044600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:68026000-68074400	Weak transcription	Gastric	stomach
41	chr8:68028000-68043000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:68028400-68074400	Weak transcription	Pancreas	Pancrea
43	chr8:68028600-68074400	Weak transcription	NHEK	skin
44	chr8:68029400-68074000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:68029800-68045400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:68029800-68045600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:68030600-68042600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:68031200-68042400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:68031400-68042400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:68031800-68044000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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