Variant report

Variant	rs1005294
Chromosome Location	chr6:143188033-143188034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143187698..143190335-chr6:143190930..143193098,2	K562	blood:
2	chr6:143178430..143180121-chr6:143186451..143188897,2	MCF-7	breast:
3	chr6:143186229..143189198-chr6:143189787..143193222,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13209704	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13211716	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13212496	0.83[EUR][1000 genomes]
rs2050311	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28743065	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4896599	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67253362	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6925325	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs728035	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8180684	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9376710	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9390025	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9390026	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403408	0.84[AMR][1000 genomes]
rs9496470	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9496471	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
2	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:143173600-143188200	Weak transcription	NHLF	lung
4	chr6:143175600-143192000	Weak transcription	NHEK	skin
5	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:143176600-143188200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
9	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:143179400-143188400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:143179600-143188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:143179600-143188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:143179600-143189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:143179600-143191200	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:143180600-143188600	Weak transcription	Fetal Thymus	thymus
19	chr6:143180600-143193000	Weak transcription	Thymus	Thymus
20	chr6:143182200-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:143182400-143188400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:143182800-143188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:143183200-143191200	Weak transcription	Right Ventricle	heart
24	chr6:143183400-143188400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:143183400-143188400	Weak transcription	GM12878-XiMat	blood
26	chr6:143184400-143188400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:143184400-143189000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:143184600-143188600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:143184600-143190200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:143184800-143189000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:143184800-143190200	Enhancers	Primary T cells from cord blood	blood
32	chr6:143184800-143190600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:143185200-143190200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:143185400-143188400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:143185400-143188400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:143185400-143188600	Weak transcription	Small Intestine	intestine
37	chr6:143185600-143188600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:143185600-143188600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:143185600-143188600	Weak transcription	Pancreas	Pancrea
40	chr6:143185600-143191000	Weak transcription	Left Ventricle	heart
41	chr6:143185600-143195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:143185600-143195000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:143185600-143195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:143185800-143195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:143186000-143188400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:143186200-143189000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:143186400-143188600	Weak transcription	Brain Anterior Caudate	brain
48	chr6:143186600-143189600	Enhancers	Fetal Kidney	kidney
49	chr6:143186800-143189400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:143186800-143189600	Enhancers	Primary B cells from peripheral blood	blood

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