Variant report

Variant	rs73494523
Chromosome Location	chr7:140527182-140527183
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	chr7:140519855..140521963-chr7:140526612..140528675,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17133505	0.89[AFR][1000 genomes]
rs17161736	0.83[AFR][1000 genomes]
rs2159474	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55676199	1.00[EUR][1000 genomes]
rs56306956	0.98[AFR][1000 genomes]
rs56940988	0.81[AFR][1000 genomes]
rs57519830	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57621953	0.81[AFR][1000 genomes]
rs57764941	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58161353	0.83[AFR][1000 genomes]
rs58233801	0.90[AFR][1000 genomes]
rs58444706	1.00[EUR][1000 genomes]
rs58554741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58801847	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59228498	1.00[EUR][1000 genomes]
rs59898525	1.00[EUR][1000 genomes]
rs60088791	0.86[AFR][1000 genomes]
rs60144069	0.90[AFR][1000 genomes]
rs60606756	1.00[EUR][1000 genomes]
rs61142678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61398083	1.00[EUR][1000 genomes]
rs61421775	0.81[AFR][1000 genomes]
rs6464107	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66565115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970891	1.00[EUR][1000 genomes]
rs6974389	1.00[EUR][1000 genomes]
rs6977964	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491841	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494517	0.98[AFR][1000 genomes]
rs73494520	0.83[AFR][1000 genomes]
rs73494540	0.85[AFR][1000 genomes]
rs73502739	1.00[EUR][1000 genomes]
rs73502751	1.00[EUR][1000 genomes]
rs73502755	0.85[AFR][1000 genomes]
rs73502794	1.00[EUR][1000 genomes]
rs73736258	1.00[EUR][1000 genomes]
rs7797753	0.87[AFR][1000 genomes]
rs7806060	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810726	0.81[AMR][1000 genomes];1.00[EUR][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	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
4	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:140492200-140530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:140493600-140536200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:140493800-140551800	Weak transcription	Left Ventricle	heart
6	chr7:140494400-140545400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
8	chr7:140498000-140548600	Weak transcription	A549	lung
9	chr7:140499200-140530400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:140500200-140530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:140500200-140533800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:140500400-140529400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:140500400-140533800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:140500400-140534000	Weak transcription	Fetal Thymus	thymus
15	chr7:140500400-140545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:140501800-140534000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:140502000-140533000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:140503200-140530200	Weak transcription	Dnd41	blood
20	chr7:140503200-140533800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:140503200-140533800	Weak transcription	K562	blood
22	chr7:140506200-140533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:140506400-140530200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:140507400-140548000	Weak transcription	Fetal Brain Female	brain
25	chr7:140508000-140532800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:140508200-140530000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:140508200-140533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:140511200-140549200	Weak transcription	Fetal Kidney	kidney
31	chr7:140511400-140529200	Weak transcription	HepG2	liver
32	chr7:140511400-140530200	Weak transcription	Ovary	ovary
33	chr7:140511400-140546600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:140512000-140527400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:140512000-140546800	Weak transcription	Thymus	Thymus
36	chr7:140516800-140536000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:140516800-140553000	Weak transcription	Spleen	Spleen
38	chr7:140517400-140548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:140517600-140545400	Weak transcription	Brain Germinal Matrix	brain
40	chr7:140517800-140530200	Weak transcription	Primary T cells from cord blood	blood
41	chr7:140517800-140533800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:140518000-140530200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:140518000-140545400	Weak transcription	Fetal Lung	lung
44	chr7:140518000-140546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:140518800-140529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:140518800-140550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:140519600-140528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:140519600-140534000	Weak transcription	Osteobl	bone
49	chr7:140519800-140545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain

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