Variant report

Variant	rs187992638
Chromosome Location	chr8:61596692-61596693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61595844..61597847-chr8:61600108..61602179,3	MCF-7	breast:
2	chr8:61594018..61597231-chr8:61607679..61611092,4	K562	blood:
3	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
4	chr8:61595659..61597988-chr8:61649091..61651205,2	MCF-7	breast:
5	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
6	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2462449	chr8:61595271-61596722	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593200-61596800	Weak transcription	Spleen	Spleen
2	chr8:61593400-61597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:61593400-61597000	Weak transcription	Lung	lung
4	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:61594000-61596800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:61594000-61596800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:61594000-61596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:61594000-61596800	Weak transcription	Brain Substantia Nigra	brain
9	chr8:61594000-61596800	Weak transcription	Fetal Brain Male	brain
10	chr8:61594000-61597000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:61594000-61597000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:61594000-61597600	Weak transcription	K562	blood
13	chr8:61594000-61598000	Enhancers	Fetal Heart	heart
14	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:61594000-61610400	Weak transcription	A549	lung
16	chr8:61594200-61596800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
20	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
21	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
23	chr8:61594400-61596800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:61594400-61597000	Enhancers	Brain Germinal Matrix	brain
25	chr8:61594400-61599200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:61594400-61599800	Enhancers	Brain Hippocampus Middle	brain
27	chr8:61594400-61600800	Enhancers	Primary T cells from cord blood	blood
28	chr8:61594600-61596800	Weak transcription	Dnd41	blood
29	chr8:61594800-61597000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:61594800-61598000	Enhancers	Duodenum Mucosa	Duodenum
31	chr8:61594800-61598000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:61595000-61597600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:61595000-61598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:61595200-61596800	Weak transcription	Brain Angular Gyrus	brain
35	chr8:61595200-61596800	Weak transcription	HUVEC	blood vessel
36	chr8:61595200-61598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:61595400-61597000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:61595400-61598000	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:61595600-61598000	Enhancers	Liver	Liver
40	chr8:61595600-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:61595800-61597800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:61595800-61598000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:61595800-61598200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:61595800-61599800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:61596000-61597800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:61596000-61598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:61596000-61599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:61596000-61599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:61596200-61596800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:61596200-61596800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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