Variant report

Variant	rs4939134
Chromosome Location	chr11:57081197-57081198
allele	C/G
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	POLR2A	chr11:57081114-57082257	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr11:57081194-57081351	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57079676..57081503-chr11:57234032..57236268,2	K562	blood:
2	chr11:57067370..57069838-chr11:57079646..57081972,2	K562	blood:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896596	0.82[AFR][1000 genomes]
rs10896601	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11228971	0.82[AFR][1000 genomes]
rs11602501	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17573746	0.85[ASN][1000 genomes]
rs1939496	0.85[ASN][1000 genomes]
rs3935069	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4939129	0.85[ASN][1000 genomes]
rs4939131	0.85[ASN][1000 genomes]
rs7130020	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7931298	0.81[ASN][1000 genomes]
rs7943915	0.86[ASN][1000 genomes]
rs7948723	0.85[ASN][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	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57074400-57081800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:57077600-57082200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:57079000-57081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:57079000-57081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:57079400-57082400	Genic enhancers	Stomach Mucosa	stomach
8	chr11:57079400-57089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
10	chr11:57079600-57081400	Genic enhancers	Esophagus	oesophagus
11	chr11:57079600-57081400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr11:57079600-57081600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:57079600-57082400	Genic enhancers	Fetal Intestine Large	intestine
14	chr11:57079600-57082800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:57079600-57082800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:57079600-57083400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:57079600-57083400	Weak transcription	Fetal Brain Male	brain
18	chr11:57079600-57084200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:57079600-57084400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:57079600-57084600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:57079600-57084600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:57079600-57084800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:57079600-57085200	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr11:57079600-57086400	Genic enhancers	Gastric	stomach
25	chr11:57079600-57089400	Weak transcription	GM12878-XiMat	blood
26	chr11:57079600-57090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:57079800-57081200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:57079800-57081200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:57079800-57081600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:57079800-57081600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:57079800-57081800	Weak transcription	Fetal Kidney	kidney
32	chr11:57079800-57082000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:57079800-57082400	Weak transcription	Fetal Heart	heart
34	chr11:57079800-57082400	Weak transcription	Small Intestine	intestine
35	chr11:57079800-57082600	Strong transcription	HUVEC	blood vessel
36	chr11:57079800-57082800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:57079800-57082800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:57079800-57082800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:57079800-57083200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:57079800-57083600	Genic enhancers	Adipose Nuclei	Adipose
41	chr11:57079800-57084200	Genic enhancers	H1 Cell Line	embryonic stem cell
42	chr11:57079800-57084600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:57079800-57084800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:57079800-57085400	Strong transcription	Aorta	Aorta
45	chr11:57079800-57085400	Strong transcription	Fetal Brain Female	brain
46	chr11:57079800-57085600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:57079800-57086200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:57079800-57087400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:57079800-57088200	Genic enhancers	Pancreas	Pancrea
50	chr11:57079800-57089000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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