Variant report

Variant	rs1439677
Chromosome Location	chr11:74720658-74720659
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74718841..74721499-chr11:74918282..74920055,2	K562	blood:
2	chr11:74720465..74722303-chr11:74950912..74953761,2	K562	blood:
3	chr11:74718195..74720247-chr11:74720638..74725199,4	K562	blood:
4	chr11:74720292..74723058-chr11:74725364..74728769,4	K562	blood:
5	chr11:74720213..74722321-chr11:74770764..74773550,2	K562	blood:
6	chr11:74709502..74714442-chr11:74716351..74722182,6	K562	blood:

Variant related genes	Relation type
ENSG00000255136	Chromatin interaction
ENSG00000261594	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10160407	0.83[AMR][1000 genomes]
rs11236247	1.00[AMR][1000 genomes]
rs11236249	0.83[AMR][1000 genomes]
rs11236259	0.83[AMR][1000 genomes]
rs11236293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501910	0.83[AMR][1000 genomes]
rs12098929	0.83[AMR][1000 genomes]
rs12271960	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274227	0.83[AMR][1000 genomes]
rs12275050	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	0.83[AMR][1000 genomes]
rs12283412	0.83[AMR][1000 genomes]
rs12284331	0.83[AMR][1000 genomes]
rs12286425	0.83[AMR][1000 genomes]
rs12286482	0.83[AMR][1000 genomes]
rs12287287	0.83[AMR][1000 genomes]
rs12288052	0.83[AMR][1000 genomes]
rs12289885	1.00[ASN][1000 genomes]
rs12290239	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13343191	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4133526	0.83[AMR][1000 genomes]
rs57031821	0.83[AMR][1000 genomes]
rs7111955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992687	1.00[ASN][1000 genomes]
rs72994528	1.00[ASN][1000 genomes]
rs73492727	0.83[AMR][1000 genomes]
rs73492743	0.83[AMR][1000 genomes]
rs73492794	0.83[AMR][1000 genomes]
rs73496929	0.83[AMR][1000 genomes]
rs73496931	0.83[AMR][1000 genomes]
rs73498736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928010	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700400-74723000	Weak transcription	Small Intestine	intestine
2	chr11:74700600-74722600	Weak transcription	HSMM	muscle
3	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
4	chr11:74701000-74722000	Weak transcription	Fetal Kidney	kidney
5	chr11:74701000-74722600	Weak transcription	HUVEC	blood vessel
6	chr11:74701000-74723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:74701600-74721600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:74702400-74722800	Weak transcription	Stomach Mucosa	stomach
9	chr11:74712000-74728200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:74714200-74725400	Strong transcription	Dnd41	blood
11	chr11:74714800-74725000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:74715000-74723600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:74715000-74724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:74715400-74721000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:74715400-74721600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:74715400-74723600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:74715400-74723800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:74715600-74723600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:74715600-74725400	Strong transcription	Liver	Liver
20	chr11:74716000-74721000	Strong transcription	Osteobl	bone
21	chr11:74716200-74721600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:74716200-74721600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:74716200-74721800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:74716200-74721800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:74716200-74722000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:74716200-74722200	Strong transcription	K562	blood
27	chr11:74716200-74724000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:74716200-74724000	Strong transcription	GM12878-XiMat	blood
29	chr11:74716200-74725600	Strong transcription	Primary T cells from cord blood	blood
30	chr11:74716400-74721000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:74716400-74721600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:74716400-74721600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:74716400-74721600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:74716400-74721600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:74716400-74721600	Strong transcription	Left Ventricle	heart
36	chr11:74716400-74721600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:74716400-74721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:74716400-74721800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:74716400-74722000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:74716400-74722000	Strong transcription	Aorta	Aorta
41	chr11:74716400-74722000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:74716400-74722000	Strong transcription	Fetal Stomach	stomach
43	chr11:74716400-74722800	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:74716400-74723600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:74716400-74723800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:74716400-74724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:74716400-74724200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:74716400-74725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:74716400-74725600	Strong transcription	Thymus	Thymus
50	chr11:74716600-74721400	Strong transcription	Brain Germinal Matrix	brain

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