Variant report

Variant	rs11678385
Chromosome Location	chr2:30492847-30492848
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-chr2:30492320..30495735,4	K562	blood:
2	chr2:30453227..30456003-chr2:30488280..30494141,6	K562	blood:
3	chr2:30492609..30498339-chr2:30504357..30508206,5	K562	blood:
4	chr2:30490451..30492862-chr2:30496665..30498912,2	K562	blood:
5	chr2:30478238..30481655-chr2:30491461..30496252,4	K562	blood:
6	chr2:30478723..30481419-chr2:30491461..30494029,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction
ENSG00000256261	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10171296	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10171305	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1039835	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1039836	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11127264	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11676884	0.81[CEU][hapmap]
rs12467372	0.91[ASN][1000 genomes]
rs12467407	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12988733	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17009315	1.00[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2362541	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs3813658	0.81[CEU][hapmap]
rs3817143	0.82[ASN][1000 genomes]
rs4384829	0.81[CEU][hapmap]
rs4564821	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs57667995	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723650	0.82[ASN][1000 genomes]
rs6733372	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs72787721	0.82[ASN][1000 genomes]
rs72787722	0.82[ASN][1000 genomes]
rs72787724	0.82[ASN][1000 genomes]
rs7562727	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7604484	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs906866	0.80[EUR][1000 genomes]
rs9309678	0.82[ASN][1000 genomes]
rs9558	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9798481	0.80[EUR][1000 genomes]
rs9967884	1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[ASN][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:52 , 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	chr2:30488400-30494600	Enhancers	Fetal Thymus	thymus
4	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
5	chr2:30489400-30495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:30489400-30496000	Weak transcription	Aorta	Aorta
7	chr2:30489600-30495600	Weak transcription	Colonic Mucosa	Colon
8	chr2:30489800-30494600	Weak transcription	HSMMtube	muscle
9	chr2:30489800-30495800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:30490000-30494600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:30490000-30495600	Weak transcription	Small Intestine	intestine
12	chr2:30490000-30495800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:30490000-30495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:30490200-30493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:30490200-30493200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:30490200-30493200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:30490200-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:30490200-30495400	Weak transcription	NH-A	brain
20	chr2:30490200-30495600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:30490400-30493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:30490400-30495400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:30490400-30495400	Weak transcription	HSMM	muscle
24	chr2:30490400-30496400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:30490800-30493000	Enhancers	Esophagus	oesophagus
26	chr2:30490800-30493800	Weak transcription	K562	blood
27	chr2:30491200-30493000	Enhancers	Left Ventricle	heart
28	chr2:30491200-30493000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:30491600-30493200	Enhancers	Adipose Nuclei	Adipose
30	chr2:30491600-30495400	Weak transcription	Pancreas	Pancrea
31	chr2:30491600-30495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:30491600-30495800	Weak transcription	Stomach Mucosa	stomach
33	chr2:30491600-30497400	Weak transcription	Thymus	Thymus
34	chr2:30491600-30499200	Weak transcription	GM12878-XiMat	blood
35	chr2:30491800-30493800	Weak transcription	A549	lung
36	chr2:30491800-30494000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:30491800-30494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:30491800-30495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:30491800-30495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:30492000-30493800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:30492000-30496200	Weak transcription	Right Atrium	heart
44	chr2:30492200-30493400	Enhancers	Spleen	Spleen
45	chr2:30492400-30494400	Weak transcription	Lung	lung
46	chr2:30492400-30495800	Enhancers	Primary B cells from cord blood	blood
47	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:30492800-30493400	Enhancers	Right Ventricle	heart
49	chr2:30492800-30494000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:30492800-30494000	Enhancers	Placenta	Placenta

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