Variant report

Variant	rs871674
Chromosome Location	chr2:11883050-11883051
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	MAX	chr2:11882925-11883190	HepG2	liver:	n/a	chr2:11882967-11882977
2	MAZ	chr2:11882848-11883416	K562	blood:	n/a	chr2:11882967-11882977
3	E2F6	chr2:11882627-11883444	K562	blood:	n/a	n/a
4	CTCF	chr2:11882900-11883050	HepG2	liver:	n/a	chr2:11882974-11882983 chr2:11882974-11882987
5	RCOR1	chr2:11882940-11885622	K562	blood:	n/a	n/a
6	MAX	chr2:11882665-11883923	HepG2	liver:	n/a	chr2:11882967-11882977
7	E2F6	chr2:11882881-11883122	K562	blood:	n/a	n/a
8	RCOR1	chr2:11882980-11883146	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:11882926-11883100	K562	blood:	n/a	n/a
10	CBX3	chr2:11882466-11883634	K562	blood:	n/a	n/a
11	MAX	chr2:11882899-11883466	K562	blood:	n/a	chr2:11882967-11882977
12	JUN	chr2:11882263-11884893	K562	blood:	n/a	chr2:11884384-11884396 chr2:11884385-11884395 chr2:11882641-11882652 chr2:11884385-11884395 chr2:11884386-11884394 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11883863-11883874 chr2:11882641-11882653 chr2:11884385-11884395
13	MAX	chr2:11882898-11883157	K562	blood:	n/a	chr2:11882967-11882977
14	MBD4	chr2:11882965-11883592	HepG2	liver:	n/a	n/a
15	MAX	chr2:11882465-11883478	K562	blood:	n/a	chr2:11882643-11882652 chr2:11882967-11882977

No.	Distal block	Cell Line	Cell type
1	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
2	chr2:11882438..11884776-chr2:11910789..11914613,4	K562	blood:
3	chr2:11882616..11883484-chr2:11891634..11892366,2	K562	blood:
4	chr2:11882508..11884186-chr2:11887506..11889026,2	MCF-7	breast:
5	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
6	chr2:11882411..11885202-chr2:11902345..11904670,2	K562	blood:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000169016	Chromatin interaction
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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4076516	0.95[AFR][1000 genomes]
rs73181399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73185104	0.95[AFR][1000 genomes]
rs893351	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
2	chr2:11879000-11883400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:11879000-11883400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:11879000-11883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:11879000-11883600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:11879200-11883200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:11879200-11883400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:11879200-11883400	Weak transcription	Stomach Mucosa	stomach
10	chr2:11879200-11883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:11879200-11883600	Weak transcription	Ovary	ovary
12	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
15	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart
16	chr2:11879200-11884000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:11879200-11884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:11879400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:11879400-11883400	Weak transcription	Esophagus	oesophagus
20	chr2:11879400-11883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:11879400-11883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11879400-11883800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:11879400-11883800	Weak transcription	Left Ventricle	heart
24	chr2:11879400-11884000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:11879600-11883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:11879600-11883600	Weak transcription	Colonic Mucosa	Colon
27	chr2:11879600-11883800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:11879600-11884000	Weak transcription	Osteobl	bone
29	chr2:11879800-11883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:11879800-11883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:11879800-11883800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:11879800-11884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11880000-11883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:11880400-11883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:11881400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:11881600-11884800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:11882000-11883400	Enhancers	K562	blood
38	chr2:11882000-11883600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:11882000-11884200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:11882000-11884400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:11882200-11883200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:11882200-11883200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:11882200-11883200	Weak transcription	Fetal Kidney	kidney
44	chr2:11882200-11883200	Enhancers	NHEK	skin
45	chr2:11882200-11884200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:11882200-11884200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:11882200-11884400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:11882200-11884400	Enhancers	Hela-S3	cervix
49	chr2:11882200-11884400	Enhancers	HMEC	breast
50	chr2:11882200-11884400	Enhancers	NHLF	lung

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