Variant report

Variant	rs7580639
Chromosome Location	chr2:11358219-11358220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11354402..11356074-chr2:11357553..11360468,2	K562	blood:
2	chr2:11356854..11358667-chr2:11369917..11371992,2	K562	blood:
3	chr2:11352617..11354469-chr2:11357510..11359510,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3771106	0.85[YRI][hapmap]
rs57401515	1.00[AMR][1000 genomes]
rs58964813	1.00[AMR][1000 genomes]
rs6719724	1.00[AMR][1000 genomes]
rs6728525	1.00[AMR][1000 genomes]
rs6734672	1.00[AMR][1000 genomes]
rs6735686	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745847	1.00[AMR][1000 genomes]
rs73915301	1.00[AMR][1000 genomes]
rs73915302	1.00[AMR][1000 genomes]
rs73915391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917510	0.89[AFR][1000 genomes]
rs73917720	1.00[AMR][1000 genomes]
rs73917725	1.00[AMR][1000 genomes]
rs7588029	1.00[AMR][1000 genomes]
rs7592172	1.00[AMR][1000 genomes]

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	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580639	CD3D	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
5	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
8	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:11320800-11377000	Strong transcription	HepG2	liver
10	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:11329200-11364400	Strong transcription	Liver	Liver
12	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:11334400-11363600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:11337000-11367400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:11337600-11362600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:11338400-11367400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:11338600-11373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:11339800-11359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11339800-11360000	Weak transcription	Spleen	Spleen
21	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
22	chr2:11340600-11369400	Weak transcription	Colonic Mucosa	Colon
23	chr2:11340800-11361200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:11341400-11358400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:11344400-11368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:11345000-11361600	Strong transcription	Fetal Intestine Large	intestine
28	chr2:11345200-11364400	Strong transcription	Adipose Nuclei	Adipose
29	chr2:11345400-11359600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:11346400-11364400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:11346400-11364400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:11346600-11358800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:11346600-11361400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11346800-11362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:11346800-11362800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:11346800-11364600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:11346800-11366400	Strong transcription	HSMM	muscle
38	chr2:11347200-11361600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:11349000-11361600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:11349000-11362000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:11349400-11362200	Strong transcription	Placenta	Placenta
42	chr2:11350200-11361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:11351200-11361200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:11351200-11362200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:11351400-11361600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:11351600-11358800	Strong transcription	HUVEC	blood vessel
47	chr2:11351800-11361000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:11351800-11361000	Strong transcription	A549	lung
49	chr2:11351800-11361400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:11352000-11361800	Strong transcription	Primary T cells fromperipheralblood	blood

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