Variant report

Variant	rs4951987
Chromosome Location	chr2:30495166-30495167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30474548..30476330-chr2:30493657..30495735,3	K562	blood:
2	chr2:30474548..30476330-chr2:30492320..30495735,4	K562	blood:
3	chr2:30492609..30498339-chr2:30504357..30508206,5	K562	blood:
4	chr2:30478238..30481655-chr2:30491461..30496252,4	K562	blood:
5	chr2:30486455..30489826-chr2:30493226..30495888,3	K562	blood:
6	chr2:30452854..30457214-chr2:30493546..30497706,4	K562	blood:

Variant related genes	Relation type
ENSG00000256261	Chromatin interaction
ENSG00000213626	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11127262	0.83[AMR][1000 genomes]
rs11694633	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13007792	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35163883	0.83[AMR][1000 genomes]
rs4952117	0.86[AMR][1000 genomes]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2120152	chr2:30495167-30495169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
4	chr2:30489400-30495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:30489400-30496000	Weak transcription	Aorta	Aorta
6	chr2:30489600-30495600	Weak transcription	Colonic Mucosa	Colon
7	chr2:30489800-30495800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:30490000-30495600	Weak transcription	Small Intestine	intestine
9	chr2:30490000-30495800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:30490000-30495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:30490200-30495400	Weak transcription	NH-A	brain
12	chr2:30490200-30495600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:30490400-30495400	Weak transcription	Fetal Intestine Large	intestine
14	chr2:30490400-30495400	Weak transcription	HSMM	muscle
15	chr2:30490400-30496400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:30491600-30495400	Weak transcription	Pancreas	Pancrea
17	chr2:30491600-30495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:30491600-30495800	Weak transcription	Stomach Mucosa	stomach
19	chr2:30491600-30497400	Weak transcription	Thymus	Thymus
20	chr2:30491600-30499200	Weak transcription	GM12878-XiMat	blood
21	chr2:30491800-30495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:30491800-30495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
24	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:30492000-30496200	Weak transcription	Right Atrium	heart
26	chr2:30492400-30495800	Enhancers	Primary B cells from cord blood	blood
27	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:30493000-30495800	Weak transcription	Esophagus	oesophagus
29	chr2:30493000-30495800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:30493000-30496200	Weak transcription	Left Ventricle	heart
31	chr2:30493200-30496000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:30493400-30495400	Weak transcription	Spleen	Spleen
33	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
34	chr2:30493800-30495400	Enhancers	A549	lung
35	chr2:30493800-30495800	Weak transcription	Fetal Stomach	stomach
36	chr2:30493800-30497000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:30494000-30495400	Weak transcription	Placenta	Placenta
38	chr2:30494000-30495800	Enhancers	Hela-S3	cervix
39	chr2:30494200-30495600	Weak transcription	Fetal Lung	lung
40	chr2:30494200-30497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:30494600-30495800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:30494600-30495800	Enhancers	HSMMtube	muscle
43	chr2:30494600-30496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:30494600-30499000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:30494600-30499400	Weak transcription	Fetal Thymus	thymus
46	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:30494800-30496000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:30494800-30496200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:30494800-30496200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:30494800-30497600	Weak transcription	Lung	lung

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