Variant report

Variant	rs9826085
Chromosome Location	chr3:49118013-49118014
allele	G/T
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	SPI1	chr3:49117866-49118140	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49116711..49118505-chr3:49131016..49132861,2	K562	blood:

Variant related genes	Relation type
RN7SL182P	TF binding region
ENSG00000198218	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10049462	1.00[ASW][hapmap]
rs11719220	1.00[ASW][hapmap]
rs13068038	1.00[ASW][hapmap]
rs13077498	1.00[ASW][hapmap]
rs13315282	1.00[AMR][1000 genomes]
rs13321689	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13324117	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs28413015	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35060561	1.00[ASW][hapmap]
rs3923913	1.00[AMR][1000 genomes]
rs7430684	1.00[AMR][1000 genomes]
rs9811724	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9813135	0.97[AFR][1000 genomes]
rs9838123	1.00[AMR][1000 genomes]
rs9841401	1.00[AMR][1000 genomes]
rs9850498	1.00[AMR][1000 genomes]
rs9852448	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs9880088	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49067400-49118400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:49073400-49118200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:49088000-49118400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:49094600-49128200	Weak transcription	Fetal Brain Male	brain
7	chr3:49095400-49129600	Weak transcription	Stomach Mucosa	stomach
8	chr3:49097800-49118200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:49097800-49118200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:49105800-49118200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:49109000-49126200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:49111800-49129600	Weak transcription	HSMMtube	muscle
13	chr3:49112600-49118200	Strong transcription	Primary B cells from cord blood	blood
14	chr3:49113800-49128400	Weak transcription	Small Intestine	intestine
15	chr3:49113800-49129200	Weak transcription	Psoas Muscle	Psoas
16	chr3:49114000-49118800	Weak transcription	HMEC	breast
17	chr3:49114400-49123800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:49114400-49125600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:49114400-49126000	Weak transcription	Ovary	ovary
20	chr3:49114400-49126200	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:49114400-49126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:49114400-49128600	Weak transcription	NHLF	lung
23	chr3:49114400-49129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:49114400-49129600	Weak transcription	Right Ventricle	heart
25	chr3:49114400-49129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:49114400-49130000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:49114800-49129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:49115000-49119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:49115000-49125800	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:49115000-49127400	Weak transcription	Brain Substantia Nigra	brain
31	chr3:49115000-49128000	Weak transcription	Pancreas	Pancrea
32	chr3:49115000-49129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:49115000-49130200	Weak transcription	Aorta	Aorta
34	chr3:49115000-49130600	Weak transcription	Spleen	Spleen
35	chr3:49115200-49126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:49115200-49127000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:49115200-49129400	Weak transcription	Fetal Brain Female	brain
38	chr3:49115200-49129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:49115400-49118600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:49115600-49118400	Weak transcription	Lung	lung
41	chr3:49115600-49118400	Weak transcription	NHEK	skin
42	chr3:49115600-49126000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:49115600-49126800	Weak transcription	Brain Angular Gyrus	brain
44	chr3:49115600-49126800	Weak transcription	A549	lung
45	chr3:49115600-49128800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:49115600-49128800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:49115600-49129400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:49115600-49129600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:49115600-49129600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr3:49115600-49130000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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