Variant report

Variant	rs12786765
Chromosome Location	chr11:57178439-57178440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr11:57178261-57178548	GM12878	blood:	n/a	n/a
2	PAX5	chr11:57178305-57178519	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57115651..57117982-chr11:57177952..57179680,2	K562	blood:

Variant related genes	Relation type
ENSG00000254979	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73474695	0.83[AFR][1000 genomes]
rs73476723	0.83[AFR][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:57171000-57184800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57172000-57185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57172600-57180000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:57172600-57189800	Strong transcription	Dnd41	blood
7	chr11:57172800-57179200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:57172800-57185000	Weak transcription	NH-A	brain
9	chr11:57173000-57179200	Strong transcription	Fetal Stomach	stomach
10	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:57173200-57184400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
14	chr11:57173400-57182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:57173400-57182800	Weak transcription	Small Intestine	intestine
16	chr11:57173600-57185600	Strong transcription	HMEC	breast
17	chr11:57174000-57179200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:57174200-57179000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:57174200-57179200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr11:57174200-57184800	Weak transcription	Psoas Muscle	Psoas
21	chr11:57174200-57186200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:57174400-57178600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:57174400-57183800	Weak transcription	Fetal Brain Male	brain
26	chr11:57174400-57185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:57174600-57179600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:57174600-57179800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:57174600-57182200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:57174600-57185800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:57174800-57178600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:57174800-57179200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:57174800-57180600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:57174800-57180600	Weak transcription	HSMM	muscle
35	chr11:57174800-57185600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:57174800-57189200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:57174800-57192000	Weak transcription	HSMMtube	muscle
38	chr11:57175000-57179000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:57175000-57179400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:57175000-57179400	Strong transcription	Ovary	ovary
41	chr11:57175000-57182800	Strong transcription	K562	blood
42	chr11:57175000-57183400	Strong transcription	Liver	Liver
43	chr11:57175000-57184000	Strong transcription	Lung	lung
44	chr11:57175000-57184000	Weak transcription	Right Atrium	heart
45	chr11:57175000-57184600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:57175000-57188800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:57175000-57190000	Strong transcription	NHEK	skin
48	chr11:57175400-57181000	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:57175400-57181200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:57175400-57190200	Strong transcription	Primary monocytes fromperipheralblood	blood

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