Variant report

Variant	rs263691
Chromosome Location	chr2:211033176-211033177
allele	G/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	CUX1	chr2:211033117-211033308	GM12878	blood:	n/a	n/a
2	CUX1	chr2:211033153-211033859	K562	blood:	n/a	n/a
3	FOS	chr2:211031790-211033316	MCF10A-Er-Src	breast:	n/a	chr2:211032193-211032202 chr2:211032194-211032205 chr2:211032193-211032201 chr2:211032096-211032105 chr2:211032191-211032202 chr2:211032193-211032200
4	POLR2A	chr2:211033005-211033329	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:211032971-211033270	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:211032879-211033470	MCF10A-Er-Src	breast:	n/a	chr2:211033319-211033328
7	TCF7L2	chr2:211032804-211033240	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:210993877..210996167-chr2:211031338..211033652,2	MCF-7	breast:
2	chr2:211032641..211035129-chr2:211036259..211038578,2	MCF-7	breast:
3	chr2:211031182..211034080-chr2:211034360..211037839,3	K562	blood:
4	chr2:211010256..211012532-chr2:211031341..211034097,2	K562	blood:
5	chr2:210890364..210892703-chr2:211032232..211034302,2	K562	blood:
6	chr2:211032101..211034393-chr2:211062710..211064748,2	K562	blood:

Variant related genes	Relation type
ENSG00000231294	TF binding region
ENSG00000231294	Chromatin interaction
ENSG00000263530	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12694195	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4673499	0.80[MKK][hapmap]
rs7567227	0.81[MKK][hapmap]
rs7586674	0.83[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
3	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:211011000-211033800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:211011000-211033800	Weak transcription	Ovary	ovary
6	chr2:211013200-211034000	Weak transcription	Primary B cells from cord blood	blood
7	chr2:211015600-211033800	Weak transcription	Fetal Stomach	stomach
8	chr2:211018800-211034200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:211019000-211033200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:211019200-211033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:211019200-211034400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:211019400-211033200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:211019400-211033200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:211019400-211033200	Weak transcription	HSMMtube	muscle
15	chr2:211019400-211033400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:211019400-211033600	Weak transcription	Fetal Brain Female	brain
17	chr2:211019600-211033200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:211022400-211034800	Weak transcription	Pancreas	Pancrea
19	chr2:211023000-211033600	Weak transcription	Fetal Thymus	thymus
20	chr2:211023200-211033800	Weak transcription	Psoas Muscle	Psoas
21	chr2:211027400-211034400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:211027600-211033200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:211027600-211034200	Weak transcription	Right Ventricle	heart
24	chr2:211027800-211033200	Weak transcription	Right Atrium	heart
25	chr2:211027800-211035000	Weak transcription	Small Intestine	intestine
26	chr2:211028000-211033200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:211028000-211033400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:211028000-211034400	Weak transcription	A549	lung
29	chr2:211028000-211034600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:211028200-211033200	Weak transcription	Primary T cells from cord blood	blood
31	chr2:211028200-211033200	Weak transcription	HepG2	liver
32	chr2:211028200-211033400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:211030400-211033400	Enhancers	Liver	Liver
34	chr2:211030400-211033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:211030400-211033600	Enhancers	Stomach Mucosa	stomach
36	chr2:211030600-211033400	Enhancers	Fetal Lung	lung
37	chr2:211030800-211033800	Enhancers	Brain Hippocampus Middle	brain
38	chr2:211031200-211033600	Enhancers	NHLF	lung
39	chr2:211031200-211034200	Enhancers	Adipose Nuclei	Adipose
40	chr2:211031200-211034200	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:211031200-211034400	Enhancers	Brain Substantia Nigra	brain
42	chr2:211031400-211033200	Enhancers	NHDF-Ad	bronchial
43	chr2:211031400-211033400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:211031400-211033800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:211031400-211034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:211031400-211034600	Enhancers	Brain Angular Gyrus	brain
47	chr2:211031600-211033400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:211031600-211033800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:211031600-211033800	Enhancers	NH-A	brain
50	chr2:211031800-211034200	Enhancers	Skeletal Muscle Male	skeletal muscle

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