Variant report

Variant	rs2808668
Chromosome Location	chr9:100452435-100452436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100422000..100424478-chr9:100450904..100452721,2	K562	blood:
2	chr9:100397144..100399097-chr9:100450547..100453354,2	K562	blood:
3	chr9:100448159..100450347-chr9:100451447..100454152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231521	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10983030	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10983447	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12379552	0.81[EUR][1000 genomes]
rs1800975	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2026132	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2036959	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2668792	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2668793	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2668798	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2773347	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2773351	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2805767	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2805775	0.87[EUR][1000 genomes]
rs2805777	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2805779	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2805824	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2805825	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2805826	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2805828	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2805829	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2805832	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2805837	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2805839	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2805840	0.87[EUR][1000 genomes]
rs2808673	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2808675	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2808677	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2808683	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2808685	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2808686	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2808687	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2808689	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2808691	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2808692	0.87[EUR][1000 genomes]
rs2808701	0.87[EUR][1000 genomes]
rs2808703	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6478325	0.88[EUR][1000 genomes]
rs7853179	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs958346	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100401200-100456000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:100402400-100455600	Strong transcription	Dnd41	blood
3	chr9:100402600-100456000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:100402600-100456200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr9:100402800-100454200	Strong transcription	Fetal Thymus	thymus
6	chr9:100402800-100456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:100403000-100454400	Strong transcription	Placenta	Placenta
8	chr9:100403000-100454600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:100403200-100454400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr9:100403200-100455000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr9:100403600-100453800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr9:100404800-100455400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:100410200-100454000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr9:100412600-100454200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:100423000-100456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:100426400-100453600	Strong transcription	Primary B cells from cord blood	blood
17	chr9:100429200-100455000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:100429200-100455600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:100429600-100454000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:100429600-100455400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:100429600-100455800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr9:100429800-100456000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr9:100434400-100455600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:100436600-100454600	Strong transcription	Adipose Nuclei	Adipose
25	chr9:100437400-100456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:100437600-100455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:100437600-100458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:100438000-100458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:100438400-100457200	Weak transcription	Psoas Muscle	Psoas
30	chr9:100438400-100457400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:100438600-100457800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:100439000-100458800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:100439800-100454400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:100440000-100454400	Strong transcription	Fetal Muscle Leg	muscle
35	chr9:100442000-100454000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:100442000-100454000	Strong transcription	Colon Smooth Muscle	Colon
37	chr9:100442000-100455200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:100442200-100454000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:100442200-100454200	Strong transcription	Brain Germinal Matrix	brain
40	chr9:100445000-100455000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:100445400-100453800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr9:100446000-100453800	Strong transcription	HepG2	liver
43	chr9:100446200-100453800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr9:100446400-100454400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:100446800-100456800	Weak transcription	Small Intestine	intestine
46	chr9:100446800-100457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:100446800-100457800	Weak transcription	Aorta	Aorta
48	chr9:100447000-100453200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:100447000-100453600	Weak transcription	Right Ventricle	heart
50	chr9:100447000-100457800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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