Variant report

Variant	rs57397608
Chromosome Location	chr11:59304723-59304724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59298576..59301819-chr11:59302452..59306750,5	K562	blood:
2	chr11:59303328..59305254-chr11:59447598..59450069,2	K562	blood:
3	chr11:59303426..59305638-chr11:59365793..59367392,2	K562	blood:
4	chr11:59298576..59301061-chr11:59302374..59304963,3	K562	blood:
5	chr11:59304688..59305401-chr12:111015463..111016230,2	NB4	blood:
6	chr11:59304452..59305342-chr11:59447720..59448612,3	K562	blood:

Variant related genes	Relation type
ENSG00000254770	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11230019	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230036	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271110	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272999	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274820	1.00[ASN][1000 genomes]
rs12287696	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291415	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154005	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17508845	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509520	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592880	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593682	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593836	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6591540	1.00[ASN][1000 genomes]
rs7101580	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107183	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112355	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118051	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130130	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924849	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929816	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948041	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948635	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952380	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997788	0.81[EUR][1000 genomes];1.00[ASN][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	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv972925	chr11:59299418-59314660	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59296200-59304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:59300000-59304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:59302400-59304800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:59304200-59304800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:59304200-59305000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:59304200-59305200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:59304200-59305200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:59304200-59305200	Active TSS	Muscle Satellite Cultured Cells	--
9	chr11:59304200-59305200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr11:59304200-59305200	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:59304200-59305200	Active TSS	A549	lung
12	chr11:59304200-59305200	Active TSS	Hela-S3	cervix
13	chr11:59304200-59305200	Active TSS	K562	blood
14	chr11:59304200-59305400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:59304200-59305400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:59304200-59305400	Active TSS	HepG2	liver
17	chr11:59304200-59305400	Active TSS	HSMM	muscle
18	chr11:59304200-59305600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:59304200-59305600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:59304200-59305600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:59304200-59305600	Active TSS	NHLF	lung
22	chr11:59304400-59304800	Enhancers	Primary B cells from cord blood	blood
23	chr11:59304400-59304800	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:59304400-59304800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:59304400-59304800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:59304400-59304800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:59304400-59304800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:59304400-59304800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:59304400-59304800	Flanking Active TSS	Liver	Liver
30	chr11:59304400-59304800	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:59304400-59304800	Enhancers	Fetal Muscle Leg	muscle
32	chr11:59304400-59304800	Enhancers	Fetal Thymus	thymus
33	chr11:59304400-59304800	Enhancers	Thymus	Thymus
34	chr11:59304400-59305000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:59304400-59305200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:59304400-59305200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:59304400-59305200	Active TSS	Adipose Nuclei	Adipose
38	chr11:59304400-59305200	Active TSS	Colonic Mucosa	Colon
39	chr11:59304400-59305200	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:59304400-59305200	Active TSS	Stomach Smooth Muscle	stomach
41	chr11:59304400-59305200	Active TSS	NHDF-Ad	bronchial
42	chr11:59304400-59305200	Active TSS	Osteobl	bone
43	chr11:59304400-59305400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:59304400-59305400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:59304400-59305400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:59304400-59305400	Active TSS	Fetal Intestine Small	intestine
47	chr11:59304400-59305600	Active TSS	Ovary	ovary
48	chr11:59304400-59305600	Active TSS	Psoas Muscle	Psoas
49	chr11:59304400-59305600	Active TSS	Right Atrium	heart
50	chr11:59304400-59305600	Flanking Active TSS	Dnd41	blood

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