Variant report

Variant	rs109301
Chromosome Location	chr6:143189217-143189218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143187698..143190335-chr6:143190930..143193098,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11155266	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11155267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198646	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs198653	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs198668	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs198675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198682	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142939	0.91[JPT][hapmap]
rs2328386	0.95[JPT][hapmap]
rs2328387	0.91[JPT][hapmap]
rs765874	0.87[ASN][1000 genomes]
rs765875	0.86[ASN][1000 genomes]
rs926372	0.91[JPT][hapmap]
rs9376711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143175600-143192000	Weak transcription	NHEK	skin
2	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
5	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:143179600-143191200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:143180600-143193000	Weak transcription	Thymus	Thymus
11	chr6:143182200-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:143183200-143191200	Weak transcription	Right Ventricle	heart
13	chr6:143184600-143190200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:143184800-143190200	Enhancers	Primary T cells from cord blood	blood
15	chr6:143184800-143190600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:143185200-143190200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:143185600-143191000	Weak transcription	Left Ventricle	heart
18	chr6:143185600-143195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:143185600-143195000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:143185600-143195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:143185800-143195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:143186600-143189600	Enhancers	Fetal Kidney	kidney
23	chr6:143186800-143189400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:143186800-143189600	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:143187000-143189400	Enhancers	Fetal Stomach	stomach
26	chr6:143187000-143190400	Enhancers	Fetal Heart	heart
27	chr6:143187000-143195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:143187200-143192800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:143187200-143193600	Weak transcription	Esophagus	oesophagus
30	chr6:143187200-143194200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:143187600-143193000	Weak transcription	Gastric	stomach
32	chr6:143187800-143189800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:143188000-143189800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:143188000-143195200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:143188200-143189800	Enhancers	Brain Angular Gyrus	brain
36	chr6:143188200-143189800	Enhancers	NHLF	lung
37	chr6:143188200-143190400	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:143188400-143189400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr6:143188400-143189600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:143188400-143189600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:143188400-143190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:143188400-143190200	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:143188400-143190200	Enhancers	Brain Hippocampus Middle	brain
44	chr6:143188400-143190400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:143188400-143190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:143188400-143190400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:143188400-143192000	Enhancers	Psoas Muscle	Psoas
48	chr6:143188600-143189400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:143188600-143189400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:143188600-143189400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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