Variant report

Variant	rs2661754
Chromosome Location	chr8:9913362-9913363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:9913149-9913386	SH-SY5Y	brain:	n/a	chr8:9913239-9913249
2	MXI1	chr8:9910994-9913437	SK-N-SH	brain:	n/a	chr8:9911023-9911038

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9912450..9914254-chr8:9914390..9916277,2	MCF-7	breast:
2	chr8:9912174..9913822-chr8:9921464..9923860,2	K562	blood:

Variant related genes	Relation type
MSRA	TF binding region
ENSG00000260093	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62488687	0.85[ASN][1000 genomes]
rs62488688	0.89[ASN][1000 genomes]
rs62488689	0.93[ASN][1000 genomes]
rs62488690	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:9911200-9913400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9911200-9913400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:9911400-9913400	Active TSS	Fetal Intestine Large	intestine
4	chr8:9911400-9913400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:9911600-9913400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:9911600-9913400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9911600-9913400	Active TSS	Fetal Brain Female	brain
8	chr8:9912000-9913600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:9912600-9913400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr8:9912600-9913400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:9912600-9913400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:9912600-9913400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:9912600-9913400	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:9912600-9913400	Flanking Active TSS	HUVEC	blood vessel
15	chr8:9912600-9913400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:9912600-9913600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr8:9912600-9913600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:9912600-9913800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9912800-9913400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:9912800-9913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:9912800-9913400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr8:9912800-9913400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:9912800-9913400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr8:9912800-9913400	Flanking Active TSS	Liver	Liver
25	chr8:9912800-9913400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr8:9912800-9913400	Flanking Active TSS	Hela-S3	cervix
27	chr8:9912800-9913600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:9913000-9913400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr8:9913000-9913400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr8:9913000-9913400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr8:9913000-9913400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:9913000-9913400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:9913000-9913400	Enhancers	Fetal Heart	heart
34	chr8:9913000-9913800	Enhancers	Fetal Brain Male	brain
35	chr8:9913000-9933400	Weak transcription	Gastric	stomach
36	chr8:9913200-9913400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:9913200-9913400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:9913200-9913400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:9913200-9913400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:9913200-9913400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:9913200-9913400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:9913200-9913400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr8:9913200-9913400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:9913200-9913400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:9913200-9913400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:9913200-9913400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:9913200-9913400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:9913200-9913400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:9913200-9913400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:9913200-9913400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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