Variant report

Variant	rs575517056
Chromosome Location	chr8:61858452-61858453
allele	-/GAACTGACT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61851365..61853234-chr8:61857166..61859095,2	K562	blood:
2	chr8:61837800..61840133-chr8:61855900..61858739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255397	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1008507	chr8:61857652-61872012	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1011118	chr8:61858187-61869780	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1004207	chr8:61858188-61869664	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv991927	chr8:61858213-61867356	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv521032	chr8:61858213-61867595	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1008761	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv465695	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv465696	chr8:61858213-61869649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv611423	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv611424	chr8:61858213-61870447	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv2764117	chr8:61858213-61879683	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61854800-61859200	Enhancers	Fetal Muscle Leg	muscle
2	chr8:61855400-61858800	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:61855400-61860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:61855800-61859200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:61855800-61862200	Enhancers	Brain Hippocampus Middle	brain
6	chr8:61855800-61862400	Enhancers	Brain Anterior Caudate	brain
7	chr8:61856000-61858800	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:61856000-61858800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:61856000-61859400	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:61856000-61862200	Enhancers	HepG2	liver
11	chr8:61856000-61863000	Enhancers	Fetal Thymus	thymus
12	chr8:61856000-61863400	Enhancers	Brain Substantia Nigra	brain
13	chr8:61856200-61859000	Enhancers	GM12878-XiMat	blood
14	chr8:61856200-61862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
16	chr8:61856400-61862600	Weak transcription	Right Atrium	heart
17	chr8:61856400-61862800	Weak transcription	Spleen	Spleen
18	chr8:61856600-61860400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:61856600-61860600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:61856600-61861600	Weak transcription	Adipose Nuclei	Adipose
21	chr8:61856600-61862600	Enhancers	HSMM	muscle
22	chr8:61856800-61860000	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:61856800-61862200	Weak transcription	Fetal Kidney	kidney
24	chr8:61857000-61858800	Enhancers	Brain Angular Gyrus	brain
25	chr8:61857000-61859600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:61857000-61859800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:61857000-61860600	Weak transcription	HMEC	breast
28	chr8:61857000-61862800	Weak transcription	Lung	lung
29	chr8:61857000-61863000	Weak transcription	Left Ventricle	heart
30	chr8:61857000-61863200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:61857200-61858600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:61857200-61860800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:61857200-61861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:61857200-61861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:61857200-61862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:61857200-61864000	Enhancers	Primary T cells from cord blood	blood
37	chr8:61857400-61859800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:61857400-61861000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:61857600-61858800	Enhancers	Fetal Intestine Small	intestine
40	chr8:61857600-61859200	Enhancers	Fetal Intestine Large	intestine
41	chr8:61857600-61860200	Weak transcription	HSMMtube	muscle
42	chr8:61857600-61860400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:61857800-61858600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:61857800-61859200	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:61857800-61860600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:61857800-61861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:61857800-61862600	Weak transcription	Fetal Stomach	stomach
48	chr8:61857800-61862800	Weak transcription	Esophagus	oesophagus
49	chr8:61858000-61863600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:61858200-61858600	Flanking Active TSS	Liver	Liver

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