Variant report

Variant	rs1650139
Chromosome Location	chr12:104979907-104979908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104976850..104978699-chr12:104978951..104981176,2	K562	blood:
2	chr12:104974220..104976063-chr12:104977911..104980754,2	MCF-7	breast:
3	chr12:104973001..104975710-chr12:104978478..104980869,2	K562	blood:
4	chr12:104978478..104980060-chr12:104982412..104984027,2	K562	blood:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1613173	0.91[EUR][1000 genomes]
rs1650142	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704888	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704897	0.92[EUR][1000 genomes]
rs1704898	0.93[EUR][1000 genomes]
rs1704899	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4964824	0.91[EUR][1000 genomes]
rs4964825	0.91[EUR][1000 genomes]
rs7301450	0.97[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
2	chr12:104971000-104990600	Weak transcription	Lung	lung
3	chr12:104971600-104982200	Weak transcription	Right Atrium	heart
4	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
5	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:104974000-104982000	Weak transcription	NH-A	brain
7	chr12:104974200-104981800	Weak transcription	NHDF-Ad	bronchial
8	chr12:104974200-104981800	Weak transcription	Osteobl	bone
9	chr12:104974400-104984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:104974600-104988800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:104974600-104990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:104975000-104982200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:104975000-104988800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:104975600-104988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:104975600-104992000	Weak transcription	Gastric	stomach
17	chr12:104976000-104987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:104976600-104980000	Strong transcription	Dnd41	blood
19	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
20	chr12:104977000-104980400	Weak transcription	Fetal Kidney	kidney
21	chr12:104977200-104982200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:104977200-104987200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:104977400-104980200	Weak transcription	K562	blood
24	chr12:104977400-104982200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:104977800-104980000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:104977800-104982200	Weak transcription	Thymus	Thymus
27	chr12:104978000-104980600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:104978000-104989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:104978400-104989600	Weak transcription	Primary B cells from cord blood	blood
30	chr12:104978600-104982200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:104978800-104980200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:104978800-104981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104978800-104981800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104979000-104980000	Weak transcription	Fetal Brain Female	brain
35	chr12:104979000-104980200	Genic enhancers	Fetal Thymus	thymus
36	chr12:104979000-104986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:104979200-104980000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr12:104979200-104980600	Weak transcription	Brain Germinal Matrix	brain
39	chr12:104979200-104981200	Enhancers	HMEC	breast
40	chr12:104979200-104981800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104979400-104980000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:104979400-104980400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104979400-104980600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:104979400-104981000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:104979600-104980200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:104979600-104980200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:104979600-104980200	Enhancers	Aorta	Aorta
48	chr12:104979600-104980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:104979600-104980600	Enhancers	Placenta	Placenta
50	chr12:104979600-104980800	Enhancers	GM12878-XiMat	blood

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