Variant report

Variant	rs375723985
Chromosome Location	chr8:68025993-68025994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68024722..68026418-chr8:68028615..68030810,2	K562	blood:
2	chr8:67973913..67977272-chr8:68024656..68026462,3	K562	blood:
3	chr8:67985384..67988219-chr8:68025028..68027428,3	K562	blood:
4	chr8:68019882..68024149-chr8:68024565..68029760,5	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:116 , 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	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
6	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
7	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
13	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:67993400-68027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:67993400-68044000	Weak transcription	Ovary	ovary
18	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
19	chr8:67994200-68044200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:67997000-68036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:67999800-68031000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:68000400-68031600	Weak transcription	Fetal Brain Female	brain
23	chr8:68000400-68035000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:68000400-68037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:68003800-68038600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:68005400-68038800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:68005800-68031200	Weak transcription	Hela-S3	cervix
28	chr8:68005800-68044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:68006200-68029800	Weak transcription	HMEC	breast
30	chr8:68006400-68039200	Weak transcription	GM12878-XiMat	blood
31	chr8:68007400-68028600	Weak transcription	NHDF-Ad	bronchial
32	chr8:68008000-68040000	Weak transcription	NHLF	lung
33	chr8:68008000-68045600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:68008200-68045400	Weak transcription	Fetal Brain Male	brain
36	chr8:68008400-68029800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:68008400-68030400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:68008400-68030400	Weak transcription	Primary B cells from cord blood	blood
39	chr8:68008400-68030400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:68008400-68039200	Weak transcription	A549	lung
41	chr8:68008400-68039600	Weak transcription	NH-A	brain
42	chr8:68008400-68044000	Weak transcription	Brain Substantia Nigra	brain
43	chr8:68008600-68030600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:68008600-68031200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:68008600-68034400	Weak transcription	Osteobl	bone
46	chr8:68008600-68035000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:68008600-68035000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:68008600-68044200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:68008600-68044400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:68008800-68026800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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