Variant report

Variant	rs560896031
Chromosome Location	chr2:20416403-20416404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20415298..20418162-chr2:20421703..20423542,3	K562	blood:
2	chr2:20414820..20416839-chr2:20419190..20421088,3	K562	blood:
3	chr2:20366147..20368368-chr2:20415586..20417297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3374014	chr2:20416371-20420569	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20404000-20422400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:20404600-20420800	Enhancers	Stomach Mucosa	stomach
4	chr2:20410600-20417400	Enhancers	Fetal Intestine Large	intestine
5	chr2:20412600-20420600	Weak transcription	NHLF	lung
6	chr2:20413000-20417600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:20413200-20420600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:20413200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:20413400-20419800	Weak transcription	Pancreas	Pancrea
10	chr2:20413400-20420600	Weak transcription	NH-A	brain
11	chr2:20413400-20421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:20413800-20417600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:20413800-20418400	Weak transcription	Fetal Lung	lung
14	chr2:20414000-20416600	Enhancers	GM12878-XiMat	blood
15	chr2:20414000-20417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:20414000-20421400	Weak transcription	Hela-S3	cervix
17	chr2:20414200-20418200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:20414200-20418200	Weak transcription	Spleen	Spleen
19	chr2:20414200-20420200	Strong transcription	Fetal Stomach	stomach
20	chr2:20414200-20420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:20414200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:20414600-20417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:20414600-20421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:20414600-20421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:20414800-20416800	Genic enhancers	Esophagus	oesophagus
26	chr2:20414800-20417200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:20414800-20419400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20414800-20419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:20414800-20420200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:20414800-20420400	Genic enhancers	Placenta	Placenta
31	chr2:20414800-20420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:20414800-20421600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:20415000-20418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:20415000-20420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:20415000-20421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:20415200-20418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:20415200-20422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:20415400-20417800	Enhancers	Colonic Mucosa	Colon
39	chr2:20415400-20418200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:20415400-20418200	Weak transcription	Fetal Kidney	kidney
41	chr2:20415400-20419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:20415600-20422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:20415800-20417600	Enhancers	Liver	Liver
44	chr2:20415800-20418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
46	chr2:20416000-20416600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:20416000-20416600	Genic enhancers	HMEC	breast
48	chr2:20416000-20417000	Strong transcription	A549	lung
49	chr2:20416000-20418400	Enhancers	HepG2	liver
50	chr2:20416000-20420400	Enhancers	Lung	lung

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