Variant report

Variant	rs59868342
Chromosome Location	chr11:57078508-57078509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57078335..57079106-chr2:96810799..96811698,2	Hela-S3	cervix:
2	chr1:205781878..205782419-chr11:57078284..57079137,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000133065	Chromatin interaction
ENSG00000158050	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58042413	1.00[AMR][1000 genomes]
rs58587506	1.00[AMR][1000 genomes]
rs60972068	1.00[AMR][1000 genomes]
rs7102220	1.00[AMR][1000 genomes]
rs7130308	1.00[AFR][1000 genomes];1.00[AMR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57067400-57079000	Weak transcription	Primary B cells from cord blood	blood
2	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57069800-57078600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:57069800-57078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:57070000-57078600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:57070200-57078600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57073800-57078600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
8	chr11:57073800-57078600	Transcr. at gene 5' and 3'	HSMM	muscle
9	chr11:57074400-57081800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:57075000-57080600	Genic enhancers	Spleen	Spleen
11	chr11:57076000-57078800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr11:57076200-57080600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:57077600-57078600	Transcr. at gene 5' and 3'	NHEK	skin
14	chr11:57077600-57082200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:57077800-57078600	Flanking Active TSS	Liver	Liver
16	chr11:57077800-57078600	Enhancers	Small Intestine	intestine
17	chr11:57077800-57078600	Flanking Active TSS	HSMMtube	muscle
18	chr11:57077800-57078600	Transcr. at gene 5' and 3'	NHLF	lung
19	chr11:57077800-57078800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr11:57077800-57078800	Transcr. at gene 5' and 3'	Stomach Mucosa	stomach
21	chr11:57077800-57079200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:57077800-57079600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:57077800-57080000	Genic enhancers	Brain Substantia Nigra	brain
24	chr11:57077800-57080000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
25	chr11:57078000-57078600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:57078000-57078600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:57078000-57078600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:57078000-57078600	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:57078000-57078600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:57078000-57078600	Transcr. at gene 5' and 3'	A549	lung
31	chr11:57078000-57078600	Transcr. at gene 5' and 3'	HMEC	breast
32	chr11:57078000-57078600	Genic enhancers	K562	blood
33	chr11:57078000-57078600	Flanking Active TSS	NH-A	brain
34	chr11:57078000-57078600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
35	chr11:57078000-57078800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:57078000-57078800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr11:57078000-57079000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr11:57078000-57079000	Flanking Active TSS	Pancreas	Pancrea
39	chr11:57078000-57079200	Active TSS	Psoas Muscle	Psoas
40	chr11:57078000-57079400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:57078000-57079600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:57078000-57079800	Enhancers	Fetal Heart	heart
43	chr11:57078000-57080000	Genic enhancers	Brain Cingulate Gyrus	brain
44	chr11:57078000-57080600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:57078200-57078600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:57078200-57078600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:57078200-57078600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
48	chr11:57078200-57078600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:57078200-57078600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:57078200-57078600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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