Variant report

Variant	rs12291345
Chromosome Location	chr11:18748918-18748919
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	CTCF	chr11:18748840-18748990	K562	blood:	n/a	chr11:18748883-18748896
2	CTCF	chr11:18748820-18748970	NHLF	lung:	n/a	chr11:18748883-18748896
3	CTCF	chr11:18748820-18748970	GM12874	blood:	n/a	chr11:18748883-18748896
4	CTCF	chr11:18748845-18749747	SK-N-SH	brain:	n/a	chr11:18749105-18749118 chr11:18748883-18748896

No.	Distal block	Cell Line	Cell type
1	chr11:18342115..18344422-chr11:18747812..18749471,2	MCF-7	breast:
2	chr11:18745653..18747287-chr11:18748846..18751758,2	K562	blood:
3	chr11:18748906..18749558-chr11:18823928..18824847,2	K562	blood:

Variant related genes	Relation type
IGSF22	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11024722	1.00[AMR][1000 genomes]
rs12271315	1.00[AMR][1000 genomes]
rs12275256	1.00[AMR][1000 genomes]
rs12276407	1.00[AMR][1000 genomes]
rs12282184	1.00[AMR][1000 genomes]
rs12283962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289644	1.00[AMR][1000 genomes]
rs12292326	1.00[AMR][1000 genomes]
rs12292992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1047371	chr11:18731473-18763037	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18743800-18749000	Weak transcription	Right Ventricle	heart
2	chr11:18743800-18749200	Weak transcription	Left Ventricle	heart
3	chr11:18743800-18753800	Weak transcription	Right Atrium	heart
4	chr11:18744000-18749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:18744000-18749000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:18744000-18749400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:18744200-18749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:18744200-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:18744200-18749400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:18744200-18749400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:18744200-18753200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:18744200-18753400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:18744200-18754200	Weak transcription	Fetal Brain Female	brain
16	chr11:18744200-18754400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:18744400-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:18744600-18749600	Enhancers	Fetal Muscle Leg	muscle
19	chr11:18745800-18749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:18745800-18749200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:18746400-18753400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:18746400-18761000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:18746800-18750200	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:18747400-18749400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:18747400-18749800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:18747400-18750000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:18747800-18751200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:18748200-18749000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:18748200-18749000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:18748200-18749000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:18748200-18749200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:18748200-18749400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:18748200-18774000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:18748800-18749000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:18748800-18749200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:18748800-18749200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:18748800-18749600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:18748800-18749600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:18748800-18749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:18748800-18749600	Enhancers	Fetal Stomach	stomach
41	chr11:18748800-18750000	Enhancers	Pancreas	Pancrea
42	chr11:18748800-18750200	Enhancers	Ovary	ovary

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