Variant report

Variant	rs2121385
Chromosome Location	chr11:18613465-18613466
allele	A/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	chr11:18613455-18613647	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18609516..18611215-chr11:18612978..18615321,2	K562	blood:
2	chr11:18612916..18614635-chr11:18629860..18632297,2	K562	blood:

Variant related genes	Relation type
UEVLD	TF binding region
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs16935609	0.83[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs34242612	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811637	1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110470	0.83[ASN][1000 genomes]
rs73422545	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424410	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424413	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424436	0.83[ASN][1000 genomes]
rs73424437	0.83[ASN][1000 genomes]
rs73424439	0.83[ASN][1000 genomes]
rs73424445	0.83[ASN][1000 genomes]
rs73424447	0.83[ASN][1000 genomes]
rs73424452	0.83[ASN][1000 genomes]
rs73424463	0.83[ASN][1000 genomes]
rs73424468	0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7926511	1.00[ASN][1000 genomes]
rs7936497	0.83[ASN][1000 genomes]
rs7938645	0.83[ASN][1000 genomes]
rs7942526	0.83[ASN][1000 genomes]
rs7951729	0.83[ASN][1000 genomes]
rs872872	0.83[ASN][1000 genomes]
rs872873	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18613600	Enhancers	Small Intestine	intestine
2	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:18611200-18613600	Enhancers	Psoas Muscle	Psoas
4	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:18611400-18627600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:18611600-18613800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:18611600-18616600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:18611600-18616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:18611600-18616800	Weak transcription	Esophagus	oesophagus
12	chr11:18611600-18617200	Weak transcription	Fetal Intestine Small	intestine
13	chr11:18611600-18617200	Weak transcription	Fetal Lung	lung
14	chr11:18611600-18627200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:18611600-18627200	Weak transcription	Brain Germinal Matrix	brain
16	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
18	chr11:18611800-18616600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:18611800-18616800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:18611800-18617400	Weak transcription	Right Ventricle	heart
21	chr11:18611800-18621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:18611800-18627200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:18612000-18615400	Weak transcription	Placenta	Placenta
25	chr11:18612000-18616600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:18612000-18616600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:18612000-18616600	Weak transcription	Adipose Nuclei	Adipose
28	chr11:18612000-18616600	Weak transcription	Lung	lung
29	chr11:18612000-18616800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:18612000-18617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:18612000-18617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:18612000-18617200	Weak transcription	Aorta	Aorta
33	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
35	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:18612200-18616400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:18612200-18616600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:18612200-18617000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:18612200-18617000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:18612200-18617200	Weak transcription	Fetal Brain Female	brain
41	chr11:18612200-18617200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
43	chr11:18612400-18616400	Weak transcription	Fetal Stomach	stomach
44	chr11:18612400-18616800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:18612400-18616800	Weak transcription	Ovary	ovary
46	chr11:18612400-18617000	Weak transcription	Left Ventricle	heart
47	chr11:18612400-18617000	Weak transcription	Pancreas	Pancrea
48	chr11:18612400-18617200	Weak transcription	NHLF	lung
49	chr11:18612400-18617400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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