Variant report

Variant	rs893351
Chromosome Location	chr2:11882211-11882212
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	BHLHE40	chr2:11882139-11882405	HepG2	liver:	n/a	n/a
2	MAX	chr2:11882183-11882315	K562	blood:	n/a	n/a
3	ZNF263	chr2:11882135-11882736	HEK293-T-REx	kidney:	n/a	n/a
4	USF1	chr2:11882098-11882341	HepG2	liver:	n/a	chr2:11882204-11882215
5	MAX	chr2:11882061-11882377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
2	chr10:32078085..32079585-chr2:11880425..11883011,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NTSR2-2	chr2:11882163-11882282	ENSG00000230790.2

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16855583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4076516	0.93[AFR][1000 genomes]
rs73181399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183104	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73185104	0.94[AFR][1000 genomes]
rs871674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11877000-11882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
4	chr2:11878800-11882800	Weak transcription	Fetal Thymus	thymus
5	chr2:11879000-11883400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:11879000-11883400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11879000-11883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:11879000-11883600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:11879200-11882400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:11879200-11883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:11879200-11883000	Weak transcription	Psoas Muscle	Psoas
13	chr2:11879200-11883200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:11879200-11883400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:11879200-11883400	Weak transcription	Stomach Mucosa	stomach
16	chr2:11879200-11883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11879200-11883600	Weak transcription	Ovary	ovary
18	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
21	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart
22	chr2:11879200-11884000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:11879200-11884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:11879400-11882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:11879400-11882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:11879400-11882800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:11879400-11882800	Weak transcription	Pancreas	Pancrea
28	chr2:11879400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:11879400-11883400	Weak transcription	Esophagus	oesophagus
30	chr2:11879400-11883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:11879400-11883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11879400-11883800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:11879400-11883800	Weak transcription	Left Ventricle	heart
34	chr2:11879400-11884000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:11879600-11882400	Weak transcription	Liver	Liver
36	chr2:11879600-11882400	Weak transcription	HUVEC	blood vessel
37	chr2:11879600-11882600	Weak transcription	A549	lung
38	chr2:11879600-11882600	Weak transcription	NH-A	brain
39	chr2:11879600-11882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:11879600-11882800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:11879600-11883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:11879600-11883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:11879600-11883600	Weak transcription	Colonic Mucosa	Colon
44	chr2:11879600-11883800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:11879600-11884000	Weak transcription	Osteobl	bone
46	chr2:11879800-11882400	Weak transcription	NHDF-Ad	bronchial
47	chr2:11879800-11882600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:11879800-11883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:11879800-11883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:11879800-11883800	Weak transcription	Monocytes-CD14+_RO01746	blood

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