Variant report

Variant	rs58233801
Chromosome Location	chr7:140489562-140489563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140486692..140490040-chr7:140490086..140493321,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17133505	0.87[AFR][1000 genomes]
rs17161709	0.85[AFR][1000 genomes]
rs2159474	0.81[AFR][1000 genomes]
rs55727905	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56940988	0.85[AFR][1000 genomes]
rs57038951	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57146841	0.87[AMR][1000 genomes]
rs57519830	0.83[AFR][1000 genomes]
rs57764941	0.81[AFR][1000 genomes]
rs58554741	0.98[AFR][1000 genomes]
rs60088791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60144069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61142678	0.94[AFR][1000 genomes]
rs61421775	0.85[AFR][1000 genomes]
rs66565115	0.85[AFR][1000 genomes]
rs73491657	0.87[AMR][1000 genomes]
rs73491839	0.84[AFR][1000 genomes]
rs73491841	0.81[AFR][1000 genomes]
rs73491853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494523	0.90[AFR][1000 genomes]
rs73494540	1.00[AMR][1000 genomes]
rs73736589	0.85[AFR][1000 genomes]
rs7778495	0.87[AMR][1000 genomes]
rs7797753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810726	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
2	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
3	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
4	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:140415200-140506600	Weak transcription	Gastric	stomach
6	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:140441400-140504000	Weak transcription	NHLF	lung
8	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
9	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:140466600-140494600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:140467000-140505000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:140469000-140499600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:140469000-140503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
17	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
18	chr7:140470800-140504800	Weak transcription	NHEK	skin
19	chr7:140471400-140494600	Strong transcription	Adipose Nuclei	Adipose
20	chr7:140472800-140502000	Weak transcription	HMEC	breast
21	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
22	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
24	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:140475600-140494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:140475600-140499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:140475800-140492600	Weak transcription	HSMM	muscle
28	chr7:140477000-140500000	Weak transcription	Esophagus	oesophagus
29	chr7:140477200-140511200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:140477400-140492000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:140477400-140492800	Weak transcription	Thymus	Thymus
32	chr7:140477400-140497200	Weak transcription	A549	lung
33	chr7:140477400-140510800	Weak transcription	Ovary	ovary
34	chr7:140477600-140492800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:140477800-140499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:140478000-140492800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:140479000-140492600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:140479000-140505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:140479200-140491600	Weak transcription	Fetal Kidney	kidney
40	chr7:140479200-140492200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:140479600-140491200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:140479600-140492800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:140479600-140502800	Weak transcription	Brain Germinal Matrix	brain
44	chr7:140479600-140510800	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:140479600-140511200	Weak transcription	Lung	lung
46	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:140479800-140502200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:140479800-140508200	Weak transcription	HSMMtube	muscle
49	chr7:140479800-140511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:140481000-140500200	Weak transcription	HUVEC	blood vessel

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