Variant report

Variant	rs12417751
Chromosome Location	chr11:72031480-72031481
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	chr11:71933353..71935607-chr11:72029508..72032210,3	K562	blood:
2	chr11:72015161..72017775-chr11:72031006..72032661,2	K562	blood:

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12417459	0.92[CHB][hapmap];0.83[GIH][hapmap]
rs12419892	0.84[ASN][1000 genomes]
rs17162056	0.83[CHB][hapmap]
rs56395219	0.84[AFR][1000 genomes]
rs57276029	0.82[AFR][1000 genomes]
rs58306819	0.81[AFR][1000 genomes]
rs58489620	0.93[AFR][1000 genomes]
rs60132455	0.84[ASN][1000 genomes]
rs61563240	0.81[AFR][1000 genomes]
rs70940825	0.92[EUR][1000 genomes]
rs73530719	0.86[AFR][1000 genomes]
rs73530721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952074	0.85[ASW][hapmap];0.81[YRI][hapmap];0.82[AFR][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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
2	chr11:72001800-72032600	Weak transcription	A549	lung
3	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:72003200-72033600	Strong transcription	Dnd41	blood
5	chr11:72003200-72034200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:72003200-72034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:72003200-72041800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:72003200-72041800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:72006000-72034600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:72006200-72040000	Weak transcription	Stomach Mucosa	stomach
11	chr11:72008400-72044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:72013600-72040200	Weak transcription	Fetal Kidney	kidney
14	chr11:72013600-72040800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:72014400-72032600	Weak transcription	HUVEC	blood vessel
16	chr11:72014600-72045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:72020400-72033400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:72020400-72039600	Weak transcription	Fetal Lung	lung
19	chr11:72020400-72039600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:72020600-72032600	Weak transcription	NH-A	brain
21	chr11:72020600-72032600	Weak transcription	NHDF-Ad	bronchial
22	chr11:72020600-72032600	Weak transcription	NHLF	lung
23	chr11:72021000-72037200	Weak transcription	Osteobl	bone
24	chr11:72021200-72033200	Strong transcription	Fetal Stomach	stomach
25	chr11:72021800-72037400	Weak transcription	HMEC	breast
26	chr11:72024400-72032400	Weak transcription	HSMM	muscle
27	chr11:72024600-72042200	Weak transcription	Small Intestine	intestine
28	chr11:72025200-72031600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:72025600-72032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:72025600-72054000	Weak transcription	GM12878-XiMat	blood
31	chr11:72026200-72033200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:72026200-72044600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:72026600-72032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:72026600-72033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:72026600-72036600	Strong transcription	Primary T cells from cord blood	blood
36	chr11:72026600-72037800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:72026600-72067400	Weak transcription	Fetal Intestine Large	intestine
38	chr11:72026800-72032200	Weak transcription	Brain Germinal Matrix	brain
39	chr11:72026800-72036800	Weak transcription	Fetal Thymus	thymus
40	chr11:72026800-72044200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:72027000-72032200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:72027000-72037400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:72027000-72041400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:72027000-72044800	Weak transcription	Colonic Mucosa	Colon
45	chr11:72027200-72032600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:72027200-72033600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:72027200-72045000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:72027400-72032200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:72027400-72039400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:72027600-72060600	Weak transcription	Brain Hippocampus Middle	brain

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