Variant report

Variant	rs874869
Chromosome Location	chr2:48094337-48094338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48084015..48085613-chr2:48093041..48095480,2	MCF-7	breast:
2	chr2:48093751..48095928-chr2:48132112..48133752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48049200-48096000	Weak transcription	Gastric	stomach
2	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
3	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
7	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
8	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:48066800-48094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:48067000-48094800	Weak transcription	K562	blood
11	chr2:48067000-48095800	Weak transcription	Fetal Thymus	thymus
12	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:48067600-48097600	Weak transcription	Dnd41	blood
14	chr2:48067800-48094400	Weak transcription	Right Atrium	heart
15	chr2:48073000-48095200	Weak transcription	Right Ventricle	heart
16	chr2:48073000-48096000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:48073600-48100000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:48075600-48094400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:48075800-48095800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:48083800-48096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:48084400-48108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:48085600-48094400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:48086000-48095000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:48087600-48096000	Weak transcription	Placenta	Placenta
25	chr2:48088600-48095800	Weak transcription	Esophagus	oesophagus
26	chr2:48089200-48096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:48089800-48095800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
29	chr2:48090000-48094800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:48090000-48098200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:48090800-48096000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:48091800-48095200	Enhancers	Brain Substantia Nigra	brain
33	chr2:48091800-48099000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:48092200-48094600	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:48092200-48094600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:48092200-48095000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:48092200-48096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:48092200-48098800	Enhancers	Brain Anterior Caudate	brain
39	chr2:48092400-48095200	Enhancers	Fetal Heart	heart
40	chr2:48092400-48100400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:48092600-48094400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:48092600-48094400	Weak transcription	Small Intestine	intestine
43	chr2:48092600-48094400	Weak transcription	Stomach Mucosa	stomach
44	chr2:48092600-48094600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:48092600-48094800	Weak transcription	Liver	Liver
46	chr2:48092600-48095800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:48092800-48094400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:48092800-48095800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:48093000-48096000	Weak transcription	GM12878-XiMat	blood
50	chr2:48093000-48097200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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