Variant report

Variant	rs58554741
Chromosome Location	chr7:140495598-140495599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140490975..140492582-chr7:140495499..140497183,2	MCF-7	breast:
2	chr7:140493612..140495803-chr7:140499760..140501822,2	MCF-7	breast:
3	chr7:140477323..140479945-chr7:140493783..140496200,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs17133505	0.86[AFR][1000 genomes]
rs17161709	0.83[AFR][1000 genomes]
rs2159474	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55676199	1.00[EUR][1000 genomes]
rs55727905	0.85[AFR][1000 genomes]
rs56306956	0.90[AFR][1000 genomes]
rs56940988	0.86[AFR][1000 genomes]
rs57038951	0.83[AFR][1000 genomes]
rs57519830	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57764941	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58233801	0.98[AFR][1000 genomes]
rs58444706	1.00[EUR][1000 genomes]
rs58801847	0.81[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	0.94[AFR][1000 genomes]
rs60144069	0.98[AFR][1000 genomes]
rs60606756	1.00[EUR][1000 genomes]
rs61142678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61398083	1.00[EUR][1000 genomes]
rs61421775	0.86[AFR][1000 genomes]
rs6464107	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66565115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970891	1.00[EUR][1000 genomes]
rs6974389	1.00[EUR][1000 genomes]
rs6977964	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491839	0.82[AFR][1000 genomes]
rs73491841	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491853	0.85[AFR][1000 genomes]
rs73494517	0.90[AFR][1000 genomes]
rs73494523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502739	1.00[EUR][1000 genomes]
rs73502751	1.00[EUR][1000 genomes]
rs73502755	0.81[AFR][1000 genomes]
rs73502794	1.00[EUR][1000 genomes]
rs73736258	1.00[EUR][1000 genomes]
rs73736589	0.83[AFR][1000 genomes]
rs7797753	0.94[AFR][1000 genomes]
rs7806060	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810726	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:140415200-140506600	Weak transcription	Gastric	stomach
4	chr7:140441400-140504000	Weak transcription	NHLF	lung
5	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
6	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:140467000-140505000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:140469000-140499600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:140469000-140503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
13	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
14	chr7:140470800-140504800	Weak transcription	NHEK	skin
15	chr7:140472800-140502000	Weak transcription	HMEC	breast
16	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
17	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
18	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
19	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:140475600-140499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:140477000-140500000	Weak transcription	Esophagus	oesophagus
22	chr7:140477200-140511200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:140477400-140497200	Weak transcription	A549	lung
24	chr7:140477400-140510800	Weak transcription	Ovary	ovary
25	chr7:140477800-140499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:140479000-140505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:140479600-140502800	Weak transcription	Brain Germinal Matrix	brain
28	chr7:140479600-140510800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:140479600-140511200	Weak transcription	Lung	lung
30	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:140479800-140502200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:140479800-140508200	Weak transcription	HSMMtube	muscle
33	chr7:140479800-140511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:140481000-140500200	Weak transcription	HUVEC	blood vessel
35	chr7:140483000-140510600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:140483800-140499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:140486000-140499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:140486400-140511000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:140486600-140503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:140488000-140510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:140488200-140511000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:140488600-140510600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:140488800-140503000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:140489200-140505000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:140489800-140496600	Strong transcription	Primary T cells from cord blood	blood
46	chr7:140490000-140501800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:140491000-140495600	Strong transcription	Primary B cells from cord blood	blood
48	chr7:140492200-140496200	Strong transcription	Fetal Intestine Large	intestine
49	chr7:140492200-140530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:140492400-140496600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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