Variant report

Variant	rs115629129
Chromosome Location	chr8:61598010-61598011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61597723..61599279-chr8:61608776..61610801,2	K562	blood:
2	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
3	chr8:61563298..61566288-chr8:61597428..61599462,2	K562	blood:
4	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
5	chr8:61586135..61588890-chr8:61597344..61600255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	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
10	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:61594000-61610400	Weak transcription	A549	lung
4	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
7	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
8	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
10	chr8:61594400-61599200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:61594400-61599800	Enhancers	Brain Hippocampus Middle	brain
12	chr8:61594400-61600800	Enhancers	Primary T cells from cord blood	blood
13	chr8:61595000-61598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61595200-61598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:61595600-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:61595800-61598200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:61595800-61599800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:61596000-61598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:61596000-61599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:61596000-61599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:61596200-61598200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61596200-61598200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:61596200-61598200	Enhancers	Left Ventricle	heart
24	chr8:61596200-61598200	Enhancers	Psoas Muscle	Psoas
25	chr8:61596200-61598400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:61596200-61598400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:61596200-61599200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:61596600-61598200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:61596800-61598200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:61596800-61598200	Enhancers	Right Atrium	heart
31	chr8:61596800-61598400	Enhancers	Right Ventricle	heart
32	chr8:61596800-61600000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:61597000-61598600	Enhancers	Brain Anterior Caudate	brain
34	chr8:61597000-61602200	Weak transcription	Fetal Intestine Small	intestine
35	chr8:61597000-61619800	Weak transcription	HMEC	breast
36	chr8:61597200-61598200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr8:61597200-61599000	Weak transcription	Spleen	Spleen
38	chr8:61597200-61600600	Enhancers	Primary B cells from cord blood	blood
39	chr8:61597200-61602000	Weak transcription	Fetal Intestine Large	intestine
40	chr8:61597200-61602000	Weak transcription	Fetal Lung	lung
41	chr8:61597200-61602200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:61597200-61602400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:61597200-61604200	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:61597200-61605200	Weak transcription	Esophagus	oesophagus
45	chr8:61597200-61605200	Weak transcription	Lung	lung
46	chr8:61597400-61598200	Enhancers	HepG2	liver
47	chr8:61597400-61600400	Weak transcription	Pancreas	Pancrea
48	chr8:61597400-61602000	Weak transcription	Fetal Thymus	thymus
49	chr8:61597400-61605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:61597400-61605600	Weak transcription	Fetal Muscle Leg	muscle

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