Variant report

Variant	rs300911
Chromosome Location	chr4:144276755-144276756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144272183..144275049-chr4:144275578..144277182,2	MCF-7	breast:
2	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
3	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
4	chr4:144255843..144260329-chr4:144275960..144279644,5	MCF-7	breast:
5	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228981	Chromatin interaction
ENSG00000265623	Chromatin interaction
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10013047	0.87[ASN][1000 genomes]
rs1027851	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1027852	0.87[ASN][1000 genomes]
rs11100786	0.85[ASN][1000 genomes]
rs11100787	0.84[ASN][1000 genomes]
rs11100788	0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11730569	0.86[ASN][1000 genomes]
rs11945731	0.80[ASN][1000 genomes]
rs11947952	0.83[ASN][1000 genomes]
rs12647531	0.86[ASN][1000 genomes]
rs12649592	0.85[ASN][1000 genomes]
rs13101346	0.87[ASN][1000 genomes]
rs13123498	0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1397528	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs1472873	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1510879	0.80[ASN][1000 genomes]
rs1510880	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1866756	0.87[ASN][1000 genomes]
rs2013856	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2048408	0.85[ASN][1000 genomes]
rs2055730	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2119270	0.85[ASN][1000 genomes]
rs2196908	0.87[ASN][1000 genomes]
rs2196909	0.87[ASN][1000 genomes]
rs300890	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs300891	0.82[ASN][1000 genomes]
rs300892	0.83[ASN][1000 genomes]
rs300893	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs300894	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs300895	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs300899	0.83[ASN][1000 genomes]
rs300904	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs300905	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs300910	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs300912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs300914	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs300915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs300916	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs300917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs300918	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs300919	0.96[CEU][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34439737	0.81[ASN][1000 genomes]
rs3792652	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3792653	0.81[CEU][hapmap];0.85[ASN][1000 genomes]
rs3792655	0.86[ASN][1000 genomes]
rs3805238	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs3805245	0.85[ASN][1000 genomes]
rs3805246	0.86[ASN][1000 genomes]
rs3805247	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3805249	0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3805251	0.80[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3805252	0.85[ASN][1000 genomes]
rs3805253	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3805254	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3805256	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3805257	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3828512	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3828513	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3828514	0.85[ASN][1000 genomes]
rs55758499	0.86[ASN][1000 genomes]
rs55894236	0.86[ASN][1000 genomes]
rs568685	0.82[ASN][1000 genomes]
rs62337488	0.82[ASN][1000 genomes]
rs624170	0.83[ASN][1000 genomes]
rs624189	0.82[ASN][1000 genomes]
rs6537154	0.84[ASN][1000 genomes]
rs6537155	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs713140	0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs719392	0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7680959	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs906571	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
2	chr4:144270000-144277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:144272000-144279200	Enhancers	Brain Anterior Caudate	brain
4	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
5	chr4:144272400-144279200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:144272800-144280200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
9	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:144273600-144277600	Weak transcription	Fetal Brain Female	brain
11	chr4:144273800-144276800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:144274600-144279400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:144274800-144278800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:144275000-144276800	Enhancers	Primary B cells from cord blood	blood
15	chr4:144275000-144279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:144275200-144279800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:144275600-144278000	Enhancers	Adipose Nuclei	Adipose
18	chr4:144275800-144276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:144276000-144277000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:144276000-144277800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:144276000-144278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:144276000-144278400	Enhancers	GM12878-XiMat	blood
24	chr4:144276000-144278800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:144276000-144278800	Enhancers	Brain Hippocampus Middle	brain
26	chr4:144276000-144278800	Enhancers	Fetal Stomach	stomach
27	chr4:144276000-144279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:144276000-144279000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:144276000-144279000	Enhancers	Small Intestine	intestine
30	chr4:144276200-144277000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:144276200-144277000	Enhancers	HUVEC	blood vessel
32	chr4:144276200-144277400	Enhancers	HSMMtube	muscle
33	chr4:144276200-144278000	Enhancers	NHLF	lung
34	chr4:144276200-144278200	Enhancers	Brain Germinal Matrix	brain
35	chr4:144276200-144278200	Enhancers	Fetal Kidney	kidney
36	chr4:144276200-144278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:144276200-144279000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:144276200-144280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:144276200-144283000	Enhancers	HMEC	breast
40	chr4:144276400-144276800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr4:144276400-144276800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:144276400-144276800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:144276400-144276800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:144276400-144276800	Enhancers	Esophagus	oesophagus
45	chr4:144276400-144276800	Enhancers	Lung	lung
46	chr4:144276400-144276800	Flanking Active TSS	Right Atrium	heart
47	chr4:144276400-144277000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:144276400-144277000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:144276400-144277000	Enhancers	Ovary	ovary
50	chr4:144276400-144277200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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