Variant report

Variant	rs4944962
Chromosome Location	chr11:74580167-74580168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74575930..74578650-chr11:74579963..74582889,3	K562	blood:
2	chr11:74576667..74578620-chr11:74579623..74581389,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs100087	0.89[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs11236291	0.81[JPT][hapmap]
rs11236292	0.81[JPT][hapmap]
rs1125609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs113187	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11827626	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1282668	0.86[ASN][1000 genomes]
rs1282675	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1282677	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1315299	0.83[ASN][1000 genomes]
rs1866562	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2436762	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2510692	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3132738	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs476040	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs483271	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs487226	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs491826	0.82[ASN][1000 genomes]
rs493001	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs494474	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs500827	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs503855	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs504970	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs507620	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs512782	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs514534	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs515429	0.88[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs516287	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs517035	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs517666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs517939	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs527661	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs532952	0.88[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs535705	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs535794	0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs536412	0.81[JPT][hapmap]
rs544115	0.81[JPT][hapmap]
rs544891	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs545202	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs545304	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs556916	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs558303	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs559211	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs563473	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs564229	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs565377	0.81[JPT][hapmap]
rs571250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs571437	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs578477	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs579581	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs580042	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs592045	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs605954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629191	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs633824	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs639768	0.81[JPT][hapmap]
rs650130	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs655488	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs662062	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs670246	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs671544	0.93[JPT][hapmap]
rs673731	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs681566	0.93[JPT][hapmap]
rs685116	0.81[JPT][hapmap]
rs693212	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7128833	0.81[JPT][hapmap]
rs7952096	0.81[JPT][hapmap]
rs7952209	0.81[JPT][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	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74562200-74595800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:74569800-74588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:74570000-74588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:74570600-74585600	ZNF genes & repeats	Dnd41	blood
5	chr11:74570600-74588400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr11:74570800-74584800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:74571000-74588400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr11:74571200-74584400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:74571200-74585200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr11:74573600-74588400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:74574200-74588400	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr11:74574800-74586600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr11:74575400-74584600	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr11:74575600-74580400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
15	chr11:74575600-74584200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:74575600-74584400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:74575600-74584800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr11:74575600-74585000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:74575600-74585800	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr11:74575600-74588400	ZNF genes & repeats	Liver	Liver
21	chr11:74575800-74584000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr11:74576000-74583800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr11:74576200-74581000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:74576200-74586600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr11:74576400-74583800	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr11:74576400-74583800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr11:74576600-74580200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr11:74576600-74584600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:74576600-74585000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr11:74576800-74580200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr11:74577400-74581600	Weak transcription	HMEC	breast
32	chr11:74578200-74580600	Weak transcription	Esophagus	oesophagus
33	chr11:74578200-74581800	Weak transcription	K562	blood
34	chr11:74578200-74582200	Weak transcription	Pancreas	Pancrea
35	chr11:74578400-74580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:74578400-74582200	Weak transcription	NHLF	lung
37	chr11:74578800-74580600	Weak transcription	NHEK	skin
38	chr11:74578800-74581200	Weak transcription	A549	lung
39	chr11:74578800-74581800	Weak transcription	Osteobl	bone
40	chr11:74579200-74581200	Weak transcription	HSMM	muscle
41	chr11:74579400-74580200	Weak transcription	Placenta	Placenta
42	chr11:74579400-74580400	Weak transcription	Fetal Intestine Small	intestine
43	chr11:74579400-74580400	Weak transcription	Small Intestine	intestine
44	chr11:74579400-74580600	Weak transcription	Left Ventricle	heart
45	chr11:74579400-74587800	ZNF genes & repeats	Fetal Brain Female	brain
46	chr11:74579400-74588000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:74579600-74580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:74579800-74580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:74579800-74580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:74579800-74581000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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