Variant report

Variant	rs11204794
Chromosome Location	chr1:151243631-151243632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151242645..151245054-chr1:151254249..151256700,2	K562	blood:
2	chr1:151243060..151245513-chr1:151253043..151256313,3	MCF-7	breast:
3	chr1:151241727..151244431-chr1:151255120..151256643,2	MCF-7	breast:
4	chr1:151242594..151244259-chr1:151262739..151265405,2	K562	blood:

Variant related genes	Relation type
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12065634	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs12076626	1.00[MEX][hapmap]
rs12078857	1.00[MEX][hapmap]
rs12088079	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
2	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
3	chr1:151228600-151244400	Weak transcription	Fetal Heart	heart
4	chr1:151230600-151244400	Strong transcription	Fetal Stomach	stomach
5	chr1:151232800-151244400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:151232800-151244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:151233800-151244400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:151234000-151244400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:151234000-151245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:151234200-151244000	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:151234200-151244200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:151234200-151244200	Strong transcription	Placenta	Placenta
13	chr1:151234200-151244400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:151234200-151244600	Strong transcription	Fetal Thymus	thymus
15	chr1:151234200-151245000	Strong transcription	Fetal Intestine Small	intestine
16	chr1:151234600-151243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:151234600-151244200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:151234600-151244200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:151234600-151244400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:151234600-151244400	Strong transcription	Osteobl	bone
21	chr1:151234600-151246800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
23	chr1:151236400-151244200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:151239800-151245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:151239800-151245400	Strong transcription	Liver	Liver
29	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:151240400-151247800	Weak transcription	Primary B cells from cord blood	blood
31	chr1:151240400-151249000	Weak transcription	GM12878-XiMat	blood
32	chr1:151240400-151253200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:151240400-151253200	Weak transcription	Hela-S3	cervix
34	chr1:151240400-151253400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:151240600-151244000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:151240600-151244000	Weak transcription	K562	blood
37	chr1:151240600-151245800	Weak transcription	Gastric	stomach
38	chr1:151240600-151246000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:151240600-151246200	Weak transcription	A549	lung
40	chr1:151240600-151246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:151240600-151246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:151240600-151249000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:151240600-151249200	Weak transcription	Spleen	Spleen
44	chr1:151240600-151250200	Weak transcription	HepG2	liver
45	chr1:151240600-151253200	Weak transcription	Primary T cells from cord blood	blood
46	chr1:151240600-151253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:151240600-151253200	Weak transcription	Right Ventricle	heart
48	chr1:151240600-151253200	Weak transcription	Dnd41	blood
49	chr1:151240600-151253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:151240600-151253400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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