Variant report

Variant	rs576667541
Chromosome Location	chr8:61862228-61862229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61854686..61856226-chr8:61860743..61862547,2	K562	blood:
2	chr8:61853213..61856894-chr8:61860542..61864181,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	esv3357776	chr8:61861811-61864920	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61855800-61862400	Enhancers	Brain Anterior Caudate	brain
2	chr8:61856000-61863000	Enhancers	Fetal Thymus	thymus
3	chr8:61856000-61863400	Enhancers	Brain Substantia Nigra	brain
4	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
5	chr8:61856400-61862600	Weak transcription	Right Atrium	heart
6	chr8:61856400-61862800	Weak transcription	Spleen	Spleen
7	chr8:61856600-61862600	Enhancers	HSMM	muscle
8	chr8:61857000-61862800	Weak transcription	Lung	lung
9	chr8:61857000-61863000	Weak transcription	Left Ventricle	heart
10	chr8:61857000-61863200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:61857200-61864000	Enhancers	Primary T cells from cord blood	blood
12	chr8:61857800-61862600	Weak transcription	Fetal Stomach	stomach
13	chr8:61857800-61862800	Weak transcription	Esophagus	oesophagus
14	chr8:61858000-61863600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:61858200-61862800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:61858200-61864200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:61858400-61863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:61858600-61862400	Weak transcription	Colonic Mucosa	Colon
19	chr8:61858600-61862600	Weak transcription	Pancreas	Pancrea
20	chr8:61859200-61862600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:61859800-61863000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:61859800-61863200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:61859800-61863400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:61859800-61863400	Enhancers	Brain Angular Gyrus	brain
25	chr8:61859800-61865800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:61860000-61862800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:61860000-61863200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:61860000-61863600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:61860000-61864000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:61860000-61864200	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:61860200-61862400	Enhancers	HSMMtube	muscle
32	chr8:61860200-61863000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:61860200-61863200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:61860200-61863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:61860200-61866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:61860400-61863000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:61860400-61863800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:61860400-61866000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:61860600-61863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:61860600-61863200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:61860600-61863400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:61860600-61863400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:61860600-61863400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:61860600-61863400	Enhancers	Placenta	Placenta
45	chr8:61860600-61863600	Enhancers	Fetal Muscle Leg	muscle
46	chr8:61860600-61866000	Enhancers	HMEC	breast
47	chr8:61860600-61866200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:61860600-61866200	Enhancers	NHDF-Ad	bronchial
49	chr8:61860800-61862600	Enhancers	Hela-S3	cervix
50	chr8:61860800-61863000	Enhancers	HUES6 Cell Line	embryonic stem cell

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