Variant report

Variant	rs11965439
Chromosome Location	chr6:144143344-144143345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144142472..144145009-chr6:144162968..144165817,2	K562	blood:
2	chr6:144136287..144139088-chr6:144141640..144144095,2	K562	blood:
3	chr6:144138025..144143695-chr6:144157697..144164178,7	K562	blood:
4	chr6:144138277..144140116-chr6:144140944..144143562,2	K562	blood:
5	chr6:144141342..144143366-chr6:144143940..144146702,4	K562	blood:

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1061690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11963739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11966700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17523460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17614442	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41285027	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55688549	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55780510	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55911614	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55971519	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56060230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144111000-144143800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144111600-144149000	Weak transcription	Right Ventricle	heart
3	chr6:144122200-144143400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:144122200-144144000	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144122200-144146800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:144122200-144147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:144122200-144147600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:144122200-144147800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:144122200-144155000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:144122200-144163600	Weak transcription	Colonic Mucosa	Colon
11	chr6:144122200-144163600	Weak transcription	Fetal Kidney	kidney
12	chr6:144123600-144150000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:144125600-144163600	Weak transcription	Psoas Muscle	Psoas
14	chr6:144125800-144143800	Weak transcription	Ovary	ovary
15	chr6:144125800-144163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:144127800-144143600	Weak transcription	NH-A	brain
17	chr6:144127800-144143600	Weak transcription	NHLF	lung
18	chr6:144127800-144143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:144128200-144144000	Weak transcription	HSMM	muscle
20	chr6:144128800-144163600	Weak transcription	HSMMtube	muscle
21	chr6:144129200-144143800	Weak transcription	NHEK	skin
22	chr6:144129200-144144800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:144129200-144146200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:144129200-144147200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:144129200-144150000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:144129200-144152800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:144129200-144159200	Weak transcription	HepG2	liver
28	chr6:144129200-144163600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:144129200-144163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:144129600-144144800	Weak transcription	Left Ventricle	heart
31	chr6:144129600-144163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:144129800-144144600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:144130000-144149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:144130000-144150800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:144130200-144143800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:144130200-144144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:144130200-144147200	Weak transcription	Stomach Mucosa	stomach
38	chr6:144130200-144150200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:144130200-144150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:144130200-144163400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:144130200-144163800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:144130400-144144000	Weak transcription	NHDF-Ad	bronchial
43	chr6:144130400-144146600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:144130400-144159800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:144133400-144143800	Weak transcription	Osteobl	bone
46	chr6:144133800-144143800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:144133800-144149200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:144134000-144143800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:144134000-144144800	Weak transcription	Liver	Liver
50	chr6:144134000-144150400	Weak transcription	Primary hematopoietic stem cells	blood

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