Variant report

Variant	rs73348324
Chromosome Location	chr6:4874123-4874124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4873429..4876543-chr6:4877040..4879479,3	K562	blood:
2	chr6:4873429..4876153-chr6:4877079..4879479,2	K562	blood:
3	chr6:4866751..4869142-chr6:4872380..4874648,2	K562	blood:
4	chr6:4865996..4868251-chr6:4873148..4875178,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1016878	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	1.00[AMR][1000 genomes]
rs58938392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	1.00[AMR][1000 genomes]
rs73362552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	1.00[AMR][1000 genomes]
rs73364540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	1.00[AMR][1000 genomes]
rs73364544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs734783	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
2	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:4859000-4876600	Weak transcription	Ovary	ovary
5	chr6:4865600-4875000	Weak transcription	Aorta	Aorta
6	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:4866600-4880200	Weak transcription	HSMM	muscle
8	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:4870800-4874200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:4871000-4876600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:4871400-4875400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:4871400-4892000	Weak transcription	NHEK	skin
15	chr6:4871600-4875800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:4871800-4876400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:4872000-4875200	Enhancers	Brain Substantia Nigra	brain
18	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:4872200-4874800	Enhancers	Brain Angular Gyrus	brain
21	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:4872400-4874400	Weak transcription	K562	blood
23	chr6:4872400-4874800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:4872400-4874800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:4872400-4875400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:4872400-4877000	Weak transcription	Psoas Muscle	Psoas
27	chr6:4872400-4879200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:4872400-4880200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:4872400-4880600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:4872600-4874600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:4872600-4877000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:4872800-4874600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:4872800-4874800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:4872800-4875000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:4872800-4877000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:4873000-4874200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:4873000-4876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:4873200-4875400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:4873200-4876600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:4873200-4879200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:4873400-4875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:4873400-4880000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:4873600-4874200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:4873600-4875000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:4873600-4875400	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:4873600-4879400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:4873800-4875400	Enhancers	Brain Anterior Caudate	brain
49	chr6:4873800-4876200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:4873800-4876400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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