Variant report

Variant	rs11252322
Chromosome Location	chr10:4124078-4124079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4117313..4119775-chr10:4122866..4124506,2	K562	blood:
2	chr10:4122248..4124500-chr10:4135012..4136575,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10508275	0.87[CEU][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10795127	0.98[ASN][1000 genomes]
rs10795138	0.81[ASN][1000 genomes]
rs10904181	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10904188	0.93[ASN][1000 genomes]
rs11252321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252324	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252344	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11252353	0.91[ASN][1000 genomes]
rs11252361	0.81[ASN][1000 genomes]
rs11252363	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11252364	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12243807	0.85[CEU][hapmap]
rs13313101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17257066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17258608	1.00[CEU][hapmap]
rs17341886	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17342732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067541	0.98[ASN][1000 genomes]
rs4147111	0.81[ASN][1000 genomes]
rs59302676	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601800	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601810	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72774769	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72774770	0.92[ASN][1000 genomes]
rs72774774	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776505	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72776531	0.84[AMR][1000 genomes]
rs72776537	0.81[ASN][1000 genomes]
rs72776538	0.81[ASN][1000 genomes]
rs9732075	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[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	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4112000-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:4117000-4125400	Weak transcription	Psoas Muscle	Psoas
3	chr10:4117000-4125600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:4117200-4125400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:4117200-4126200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:4117800-4124200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:4118000-4126000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:4118000-4126000	Weak transcription	NHEK	skin
9	chr10:4119200-4124200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr10:4119800-4124200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr10:4119800-4124200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr10:4120800-4125200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:4121600-4124200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr10:4121600-4124200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:4121800-4124200	Enhancers	HUVEC	blood vessel
16	chr10:4121800-4128200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:4122200-4124200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:4122200-4126400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:4122600-4126400	Enhancers	NHDF-Ad	bronchial
20	chr10:4122800-4125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:4122800-4125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:4123000-4124200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr10:4123000-4124200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr10:4123000-4125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:4123400-4124200	Enhancers	Fetal Muscle Leg	muscle
26	chr10:4123400-4126800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:4123600-4124200	Enhancers	Dnd41	blood
28	chr10:4123600-4124800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:4123600-4126200	Enhancers	Right Ventricle	heart
30	chr10:4123600-4126400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:4123600-4126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr10:4123600-4127400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:4123600-4128400	Enhancers	Adipose Nuclei	Adipose
34	chr10:4123600-4128800	Enhancers	Fetal Heart	heart
35	chr10:4123800-4124200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:4123800-4124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:4123800-4124200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:4123800-4124200	Enhancers	Placenta	Placenta
39	chr10:4123800-4124200	Enhancers	Fetal Stomach	stomach
40	chr10:4123800-4124200	Enhancers	Small Intestine	intestine
41	chr10:4123800-4124200	Enhancers	HMEC	breast
42	chr10:4123800-4124200	Enhancers	HSMM	muscle
43	chr10:4123800-4124200	Enhancers	NH-A	brain
44	chr10:4123800-4124400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:4123800-4124400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr10:4123800-4124600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr10:4123800-4125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:4123800-4125800	Enhancers	Lung	lung
49	chr10:4123800-4125800	Enhancers	Spleen	Spleen
50	chr10:4123800-4126000	Enhancers	Right Atrium	heart

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