Variant report

Variant	rs7950002
Chromosome Location	chr11:73263443-73263444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73262802..73266231-chr11:73269278..73271662,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1002126	0.88[CEU][hapmap]
rs10047442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898925	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11235746	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11820786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823979	0.89[EUR][1000 genomes]
rs11826896	0.83[CEU][hapmap]
rs11826909	0.83[CEU][hapmap]
rs12276536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12421053	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939382	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298807	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs2366780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944845	0.90[ASN][1000 genomes]
rs55751428	0.93[ASN][1000 genomes]
rs6592523	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs7101831	0.84[CEU][hapmap]
rs7119167	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127171	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131383	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs73542998	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7930880	0.85[CHB][hapmap]
rs7935204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937066	0.82[EUR][1000 genomes]
rs7944346	0.81[AFR][1000 genomes]
rs7945596	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7948630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952686	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs876480	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs880317	1.00[CEU][hapmap]
rs947837	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
2	chr11:73249600-73266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:73249600-73266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:73250000-73265800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:73250200-73266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:73250800-73265800	Weak transcription	Right Atrium	heart
10	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:73251000-73265600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
13	chr11:73251600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:73253600-73265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:73257600-73266000	Weak transcription	Left Ventricle	heart
17	chr11:73258600-73266000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:73258800-73278000	Weak transcription	Primary B cells from cord blood	blood
19	chr11:73259800-73265600	Weak transcription	GM12878-XiMat	blood
20	chr11:73260000-73265200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:73260800-73266000	Weak transcription	Gastric	stomach
22	chr11:73261000-73265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:73262200-73281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:73262400-73264000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:73262400-73265800	Weak transcription	Fetal Intestine Large	intestine
26	chr11:73262400-73266000	Weak transcription	Right Ventricle	heart
27	chr11:73262600-73276800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:73262800-73263800	Enhancers	Colon Smooth Muscle	Colon
29	chr11:73262800-73264800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:73262800-73265800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:73263000-73263800	Enhancers	Rectal Smooth Muscle	rectum
32	chr11:73263000-73264600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:73263000-73265800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:73263000-73265800	Weak transcription	Psoas Muscle	Psoas
35	chr11:73263000-73266200	Weak transcription	Ovary	ovary
36	chr11:73263200-73263600	Weak transcription	Small Intestine	intestine
37	chr11:73263200-73264200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:73263200-73264600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:73263200-73265600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:73263200-73265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:73263200-73265800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:73263200-73265800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:73263200-73265800	Weak transcription	Brain Angular Gyrus	brain
44	chr11:73263200-73265800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:73263200-73266000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:73263200-73269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:73263200-73276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:73263400-73263600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73263400-73264600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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