Variant report

Variant	rs180957648
Chromosome Location	chr8:61658430-61658431
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61655145..61656697-chr8:61656892..61658859,2	K562	blood:
2	chr8:61644817..61647237-chr8:61656658..61659132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	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
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
5	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:61649200-61660800	Weak transcription	Small Intestine	intestine
7	chr8:61651600-61664600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:61652000-61663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:61653200-61663400	Weak transcription	Fetal Brain Female	brain
10	chr8:61653800-61658600	Strong transcription	Primary B cells from cord blood	blood
11	chr8:61655000-61660200	Weak transcription	K562	blood
12	chr8:61655000-61664800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:61655000-61665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:61655400-61659400	Weak transcription	NH-A	brain
15	chr8:61655400-61660200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:61655600-61660200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:61655600-61663400	Weak transcription	Dnd41	blood
18	chr8:61655600-61663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:61655600-61663800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:61655600-61664000	Weak transcription	HSMMtube	muscle
21	chr8:61655600-61664200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:61655600-61664200	Weak transcription	Spleen	Spleen
23	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
24	chr8:61655800-61660200	Weak transcription	Fetal Thymus	thymus
25	chr8:61655800-61660600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:61655800-61664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:61655800-61664000	Weak transcription	Fetal Kidney	kidney
28	chr8:61655800-61664400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:61655800-61666200	Weak transcription	Lung	lung
30	chr8:61656000-61660000	Weak transcription	Primary T cells from cord blood	blood
31	chr8:61656000-61663400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:61656000-61663600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:61656000-61663800	Weak transcription	GM12878-XiMat	blood
34	chr8:61656000-61664000	Weak transcription	Fetal Stomach	stomach
35	chr8:61656000-61664600	Weak transcription	Fetal Brain Male	brain
36	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:61656200-61660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:61656200-61661000	Weak transcription	Brain Angular Gyrus	brain
39	chr8:61656200-61664200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:61656800-61663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:61656800-61663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:61656800-61664200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:61656800-61664800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:61657000-61660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:61657000-61660200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:61657000-61660200	Weak transcription	Brain Germinal Matrix	brain
47	chr8:61657000-61660200	Weak transcription	Fetal Heart	heart
48	chr8:61657000-61660200	Weak transcription	Psoas Muscle	Psoas
49	chr8:61657000-61660400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:61657000-61660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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