Variant report

Variant	rs17023423
Chromosome Location	chr2:100629348-100629349
allele	A/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	RCOR1	chr2:100626739-100631278	IMR90	lung:	n/a	n/a
2	POLR2A	chr2:100628835-100629388	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr2:100627729-100631233	IMR90	lung:	n/a	n/a
4	POLR2A	chr2:100628794-100629389	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100623047..100624853-chr2:100629013..100630619,2	MCF-7	breast:

Variant related genes	Relation type
AFF3	TF binding region
ENSG00000144218	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10191655	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs17023418	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17023450	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs6743560	1.00[EUR][1000 genomes]
rs72966498	1.00[EUR][1000 genomes]
rs72968866	1.00[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
5	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:100623800-100630200	Weak transcription	Liver	Liver
7	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:100624200-100629400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:100624200-100632600	Weak transcription	Gastric	stomach
11	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
13	chr2:100625200-100630200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:100625200-100631200	Enhancers	NHLF	lung
16	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
17	chr2:100625400-100631200	Enhancers	Fetal Heart	heart
18	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
19	chr2:100625800-100630800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:100626600-100632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:100626600-100632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:100626600-100632400	Weak transcription	Lung	lung
23	chr2:100626600-100632400	Weak transcription	Dnd41	blood
24	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:100627200-100630000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:100627200-100635800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:100627600-100631400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:100627800-100631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:100627800-100637800	Strong transcription	Primary B cells from cord blood	blood
33	chr2:100628000-100630200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:100628000-100630400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:100628000-100630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:100628000-100633000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:100628200-100630800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:100628200-100635200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:100628400-100634600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:100628600-100631200	Enhancers	Fetal Brain Male	brain
41	chr2:100628600-100632400	Weak transcription	Fetal Kidney	kidney
42	chr2:100628600-100634200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:100628800-100629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:100628800-100631000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:100629000-100629400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:100629000-100632800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:100629200-100629400	Enhancers	Fetal Brain Female	brain
48	chr2:100629200-100629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:100629200-100630000	Weak transcription	Ovary	ovary
50	chr2:100629200-100630000	Weak transcription	HSMMtube	muscle

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