Variant report

Variant	rs73473180
Chromosome Location	chr11:49230143-49230144
allele	A/C
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	chr11:49230040-49230190	HPF	lung:	n/a	n/a
2	KAP1	chr11:49229843-49230354	HEK293	kidney:	n/a	n/a
3	POLR2A	chr11:49229821-49230328	SK-N-MC	brain:	n/a	n/a
4	NFIC	chr11:49229986-49230474	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:49229908-49230234	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr11:49229995-49230456	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr11:49229903-49230310	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:49230050-49230194	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:49229781-49230243	ECC-1	luminal epithelium:	n/a	n/a
10	FOXP2	chr11:49229952-49230222	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr11:49229686-49230310	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
FOLH1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16914263	1.00[AMR][1000 genomes]
rs7105147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475142	1.00[AMR][1000 genomes]
rs73475229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv972015	chr11:49187522-49240719	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1834726	chr11:49215288-49242990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49226400-49230600	Active TSS	Duodenum Mucosa	Duodenum
2	chr11:49227400-49230400	Active TSS	Fetal Intestine Small	intestine
3	chr11:49228000-49230600	Active TSS	Fetal Intestine Large	intestine
4	chr11:49228200-49230400	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr11:49228200-49230600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:49228400-49230400	Active TSS	Brain Angular Gyrus	brain
7	chr11:49228400-49230400	Active TSS	Brain Anterior Caudate	brain
8	chr11:49228400-49230600	Active TSS	Brain Hippocampus Middle	brain
9	chr11:49228600-49230400	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:49228600-49230400	Active TSS	Brain Substantia Nigra	brain
11	chr11:49229200-49230600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:49229400-49230200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:49229400-49230200	Active TSS	Fetal Brain Female	brain
14	chr11:49229400-49230400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:49229400-49230400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:49229400-49230400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:49229400-49230400	Active TSS	Fetal Kidney	kidney
18	chr11:49229400-49230400	Active TSS	Fetal Lung	lung
19	chr11:49229400-49230400	Active TSS	Fetal Stomach	stomach
20	chr11:49229400-49230600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:49229400-49230600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:49229400-49230600	Active TSS	Ovary	ovary
23	chr11:49229600-49230200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr11:49229600-49230200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr11:49229600-49230200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:49229600-49230200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:49229600-49230200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:49229600-49230200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr11:49229600-49230200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:49229600-49230200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:49229600-49230200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:49229600-49230200	Active TSS	Aorta	Aorta
33	chr11:49229600-49230200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr11:49229600-49230200	Bivalent/Poised TSS	Colonic Mucosa	Colon
35	chr11:49229600-49230200	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr11:49229600-49230200	Active TSS	Gastric	stomach
37	chr11:49229600-49230200	Flanking Active TSS	Left Ventricle	heart
38	chr11:49229600-49230200	Flanking Active TSS	Pancreas	Pancrea
39	chr11:49229600-49230200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:49229600-49230200	Active TSS	Rectal Smooth Muscle	rectum
41	chr11:49229600-49230200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:49229600-49230200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:49229600-49230200	Active TSS	Spleen	Spleen
44	chr11:49229600-49230200	Bivalent/Poised TSS	A549	lung
45	chr11:49229600-49230200	Active TSS	NHLF	lung
46	chr11:49229600-49230400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:49229600-49230400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:49229600-49230400	Active TSS	Colon Smooth Muscle	Colon
49	chr11:49229600-49230400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr11:49229600-49230400	Active TSS	Right Ventricle	heart

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