Variant report

Variant	rs12291516
Chromosome Location	chr11:18128018-18128019
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	CTCF	chr11:18127559-18128042	GM10266	blood:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
2	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr11:18127880-18128030	HFF-Myc	foreskin:	n/a	n/a
4	SIN3AK20	chr11:18127231-18128045	MCF-7	breast:	n/a	n/a
5	TCF12	chr11:18127146-18128036	A549	lung:	n/a	chr11:18127372-18127382 chr11:18127719-18127726
6	SP2	chr11:18127410-18128044	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:18127025-18128034	PFSK-1	brain:	n/a	n/a
8	CTCF	chr11:18127357-18128070	A549	lung:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
9	GABPA	chr11:18127060-18128080	MCF-7	breast:	n/a	n/a
10	HCFC1	chr11:18126925-18128087	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:18127905-18128045	GM12892	blood:	n/a	n/a
12	MAX	chr11:18127097-18128018	A549	lung:	n/a	n/a
13	CTCF	chr11:18127909-18128050	GM19240	blood:	n/a	n/a
14	CTCF	chr11:18126993-18128079	SK-N-SH	brain:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
15	REST	chr11:18126936-18128074	H1-neurons	neurons:	n/a	chr11:18127714-18127727 chr11:18127366-18127379 chr11:18127711-18127724
16	NFIC	chr11:18127361-18128063	ECC-1	luminal epithelium:	n/a	chr11:18127716-18127732 chr11:18127715-18127732
17	JUN	chr11:18127056-18128041	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:

Variant related genes	Relation type
SAAL1	TF binding region
HIGD1AP5	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10466422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024463	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270273	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276137	1.00[AMR][1000 genomes]
rs12289911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295348	1.00[AMR][1000 genomes]
rs12295423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377295	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377403	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16934928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16934941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16935117	1.00[AMR][1000 genomes]
rs28482781	1.00[AMR][1000 genomes]
rs7106562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs871698	0.98[AFR][1000 genomes];1.00[AMR][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	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	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18126000-18128200	Active TSS	A549	lung
2	chr11:18126400-18128200	Active TSS	Ovary	ovary
3	chr11:18126400-18128200	Active TSS	NHDF-Ad	bronchial
4	chr11:18126600-18128200	Active TSS	Brain Angular Gyrus	brain
5	chr11:18126600-18128200	Active TSS	Fetal Brain Female	brain
6	chr11:18126600-18128200	Active TSS	Psoas Muscle	Psoas
7	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
9	chr11:18126800-18128200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:18126800-18128200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:18126800-18128200	Active TSS	Brain Cingulate Gyrus	brain
12	chr11:18126800-18128200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:18126800-18128200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:18126800-18128200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:18126800-18128200	Active TSS	HSMMtube	muscle
16	chr11:18126800-18128400	Active TSS	Stomach Smooth Muscle	stomach
17	chr11:18127000-18128400	Active TSS	Brain Anterior Caudate	brain
18	chr11:18127200-18128200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:18127600-18128200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:18127600-18128200	Enhancers	Fetal Heart	heart
21	chr11:18127600-18128200	Flanking Active TSS	NHEK	skin
22	chr11:18127600-18128400	Enhancers	Small Intestine	intestine
23	chr11:18127800-18128200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:18127800-18128200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:18127800-18128200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:18127800-18128200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:18127800-18128200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:18127800-18128200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:18127800-18128200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr11:18127800-18128200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr11:18127800-18128200	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr11:18127800-18128200	Active TSS	Right Atrium	heart
33	chr11:18127800-18128200	Enhancers	Stomach Mucosa	stomach
34	chr11:18127800-18128200	Flanking Active TSS	Dnd41	blood
35	chr11:18127800-18128200	Flanking Active TSS	Hela-S3	cervix
36	chr11:18127800-18128200	Flanking Active TSS	HepG2	liver
37	chr11:18127800-18128400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:18127800-18128400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:18127800-18128400	Enhancers	Gastric	stomach
40	chr11:18128000-18128200	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:18128000-18128200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr11:18128000-18128200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:18128000-18128200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:18128000-18128200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:18128000-18128200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18128000-18128200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:18128000-18128200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:18128000-18128200	Enhancers	Fetal Muscle Leg	muscle
49	chr11:18128000-18128200	Enhancers	Left Ventricle	heart
50	chr11:18128000-18128200	Enhancers	Pancreas	Pancrea

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