Variant report

Variant	rs9967854
Chromosome Location	chr2:30490227-30490228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30452974..30456196-chr2:30487344..30491801,6	K562	blood:
2	chr2:30453227..30456003-chr2:30488280..30494141,6	K562	blood:
3	chr2:30483037..30484827-chr2:30488803..30490387,2	K562	blood:
4	chr2:30474584..30477299-chr2:30489169..30490893,2	K562	blood:
5	chr2:30449278..30451842-chr2:30489475..30491063,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13422955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61230705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7560707	0.98[AFR][1000 genomes];1.00[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	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 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	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:30487000-30490600	Enhancers	Fetal Intestine Small	intestine
4	chr2:30487200-30491600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:30488000-30492000	Enhancers	Primary B cells from cord blood	blood
7	chr2:30488400-30490400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30488400-30490400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:30488400-30490400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:30488400-30490600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr2:30488400-30491200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr2:30488400-30491800	Enhancers	A549	lung
13	chr2:30488400-30494600	Enhancers	Fetal Thymus	thymus
14	chr2:30488600-30490400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:30488800-30490400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
17	chr2:30489000-30490400	Enhancers	Esophagus	oesophagus
18	chr2:30489000-30490400	Enhancers	Spleen	Spleen
19	chr2:30489200-30490400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:30489200-30491600	Enhancers	Thymus	Thymus
21	chr2:30489400-30491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:30489400-30491200	Weak transcription	Stomach Mucosa	stomach
23	chr2:30489400-30495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:30489400-30496000	Weak transcription	Aorta	Aorta
25	chr2:30489600-30490400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:30489600-30490400	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:30489600-30490400	Enhancers	Fetal Intestine Large	intestine
28	chr2:30489600-30491200	Weak transcription	Pancreas	Pancrea
29	chr2:30489600-30491200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:30489600-30491800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:30489600-30495600	Weak transcription	Colonic Mucosa	Colon
32	chr2:30489800-30490600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:30489800-30491000	Weak transcription	Right Ventricle	heart
34	chr2:30489800-30491200	Weak transcription	Right Atrium	heart
35	chr2:30489800-30491200	Weak transcription	GM12878-XiMat	blood
36	chr2:30489800-30491600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:30489800-30491800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:30489800-30494600	Weak transcription	HSMMtube	muscle
39	chr2:30489800-30495800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:30490000-30490600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:30490000-30491600	Weak transcription	Fetal Lung	lung
42	chr2:30490000-30491800	Enhancers	Primary T cells from cord blood	blood
43	chr2:30490000-30491800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:30490000-30491800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:30490000-30492800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:30490000-30494600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:30490000-30495600	Weak transcription	Small Intestine	intestine
48	chr2:30490000-30495800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:30490000-30495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:30490200-30490400	Enhancers	HSMM	muscle

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